{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379958048",
  "communityStandardTitle": [
    "NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=867854[alleleid]",
        "alleleId": 867854,
        "preferredName": "NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/879291",
        "RCV": [
          "RCV001106652",
          "RCV001106654",
          "RCV001106653",
          "RCV001108805"
        ],
        "variationId": 879291
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31822293C>T?assembly=hg19",
        "id": "chr11:g.31822293C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31800745C>T?assembly=hg38",
        "id": "chr11:g.31800745C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1953501315",
        "rs": 1953501315
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31800745,
          "referenceAllele": "C",
          "start": 31800744
        }
      ],
      "hgvs": [
        "NC_000011.10:g.31800745C>T",
        "CM000673.2:g.31800745C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31822293,
          "referenceAllele": "C",
          "start": 31822292
        }
      ],
      "hgvs": [
        "NC_000011.9:g.31822293C>T",
        "CM000673.1:g.31822293C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31778869,
          "referenceAllele": "C",
          "start": 31778868
        }
      ],
      "hgvs": [
        "NC_000011.8:g.31778869C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22217,
          "referenceAllele": "G",
          "start": 22216
        }
      ],
      "hgvs": [
        "NG_008679.1:g.22217G>A",
        "LRG_720:g.22217G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.13:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000241001.8:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.7:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000368401.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.7:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368403.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.7:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.3:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368406.3:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.9:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.5:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000368410.5:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.10:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.6:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000368418.6:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.7:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000368424.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.8:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368427.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.6:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000404100.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.7:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.3:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000388132.3:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000438681.6:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404356.2:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000404356.2:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000455099.6:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397384.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000397384.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.7:n.2789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.6:n.891G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.2:n.999G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000481563.6:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492205.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492205.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.7:n.1275G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.6:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000431585.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000531910.6:n.1176G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.7:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000480026.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638250.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491365.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491365.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638346.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491267.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491267.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638629.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490971.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000490971.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 5657,
          "referenceAllele": "G",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638685.1:c.10+5657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492316.1:n.10+5657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638696.1:c.403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492756.1:p.Gly135Ser",
        "hgvsWellDefined": "ENSP00000492756.1:p.Gly135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638755.1:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492181.1:p.Gly121Ser",
        "hgvsWellDefined": "ENSP00000492181.1:p.Gly121Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638762.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491517.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491517.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638802.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492437.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492437.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638853.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491280.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491280.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638878.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492081.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492081.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638913.1:n.1618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638914.3:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492315.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000492315.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638963.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491948.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000491948.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 5956,
          "referenceAllele": "G",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 5957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638965.1:c.-80-5957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492769.1:n.-80-5957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639006.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491210.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491210.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639034.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491679.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000491679.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639054.1:n.1592G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639061.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491324.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491324.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1880,
          "referenceAllele": "G",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639079.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492129.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492129.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639109.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491904.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491904.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639386.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492658.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492658.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639394.1:c.*350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492177.1:n.*350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639409.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492476.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000492476.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639548.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491944.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491944.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639916.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490963.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000490963.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639943.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491229.1:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000491229.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "G",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639950.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491862.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000491862.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640125.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492166.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000492166.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640172.1:n.1748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640242.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492409.1:p.Gly158Ser",
        "hgvsWellDefined": "ENSP00000492409.1:p.Gly158Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640287.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492822.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000492822.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 5657,
          "referenceAllele": "G",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640335.1:c.10+5657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492808.1:n.10+5657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640368.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492024.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000492024.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.511G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.511G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Gly171Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Gly171Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640431.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491779.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000491779.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640460.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492802.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000492802.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640610.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491295.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000491295.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640613.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492587.1:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000492587.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640684.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491492.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000491492.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640735.1:n.544G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640766.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491214.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491214.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640872.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491065.1:p.Gly21Ser",
        "hgvsWellDefined": "ENSP00000491065.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640963.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492397.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000492397.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640975.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491872.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000491872.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000643871.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495109.1:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000495109.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.12:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000241001.8:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.6:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000368401.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.6:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368403.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.6:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368406.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.8:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.4:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000368410.4:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.9:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.5:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368418.5:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.6:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000368424.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.7:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Gly157Ser",
        "hgvsWellDefined": "ENSP00000368427.2:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.5:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000404100.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000455099.5:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397384.1:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000397384.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 5956,
          "referenceAllele": "G",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 5957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.5:n.130-5957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.6:n.2044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.5:n.552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000481563.5:n.575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.6:n.1662G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "referenceAllele": "G",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000531910.5:n.218G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5375,
          "referenceAllele": "G",
          "start": 5374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000533333.5:n.5375G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.5:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Gly171Ser",
        "hgvsWellDefined": "ENSP00000480026.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138659",
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.4:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_000271.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646087",
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001121084.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475096",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001245391.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475432",
      "coordinates": [
        {
          "allele": "A",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001245392.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475766",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001245393.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476098",
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001245394.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940056",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001297087.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940390",
      "coordinates": [
        {
          "allele": "A",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310159.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297088.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001297088.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940527",
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001297089.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940706",
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001297090.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332420",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.5:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Gly171Ser",
        "hgvsWellDefined": "NP_001595.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252954.3:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253011.1:p.Gly171Ser",
        "hgvsWellDefined": "XP_005253011.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252955.3:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253012.1:p.Gly157Ser",
        "hgvsWellDefined": "XP_005253012.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252956.3:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253013.1:p.Gly157Ser",
        "hgvsWellDefined": "XP_005253013.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252958.3:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253015.1:p.Gly21Ser",
        "hgvsWellDefined": "XP_005253015.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_006718246.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718309.1:p.Gly90Ser",
        "hgvsWellDefined": "XP_006718309.1:p.Gly90Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520146.1:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518448.1:p.Gly239Ser",
        "hgvsWellDefined": "XP_011518448.1:p.Gly239Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520147.1:c.673G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518449.1:p.Gly225Ser",
        "hgvsWellDefined": "XP_011518449.1:p.Gly225Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520148.1:c.514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518450.1:p.Gly172Ser",
        "hgvsWellDefined": "XP_011518450.1:p.Gly172Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520149.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518451.1:p.Gly171Ser",
        "hgvsWellDefined": "XP_011518451.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520150.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518452.1:p.Gly171Ser",
        "hgvsWellDefined": "XP_011518452.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520151.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518453.1:p.Gly158Ser",
        "hgvsWellDefined": "XP_011518453.1:p.Gly158Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520152.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518454.1:p.Gly104Ser",
        "hgvsWellDefined": "XP_011518454.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520153.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518455.1:p.Gly21Ser",
        "hgvsWellDefined": "XP_011518455.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646087",
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001121084.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475096",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001245391.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476098",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001245394.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940706",
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001297090.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292559",
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355816.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292892",
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355817.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293224",
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355818.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293557",
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355819.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293890",
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355820.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294227",
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355821.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294564",
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355822.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294901",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355823.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296086",
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355828.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296265",
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355829.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296444",
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355830.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355831.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296802",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355832.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296982",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355833.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297160",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355834.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297339",
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355835.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297518",
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355836.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297697",
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355837.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297876",
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355838.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298188",
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.1:c.712G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Gly238Ser",
        "hgvsWellDefined": "NP_001355839.1:p.Gly238Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298442",
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.1:c.514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Gly172Ser",
        "hgvsWellDefined": "NP_001355840.1:p.Gly172Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298748",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355841.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299063",
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355842.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299380",
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.1:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355843.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299692",
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355844.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300003",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355845.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300307",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.1:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355846.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300632",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Gly196Ser",
        "hgvsWellDefined": "NP_001355847.1:p.Gly196Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300957",
      "coordinates": [
        {
          "allele": "A",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Gly196Ser",
        "hgvsWellDefined": "NP_001355848.1:p.Gly196Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301277",
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.1:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Gly182Ser",
        "hgvsWellDefined": "NP_001355849.1:p.Gly182Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301544",
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355850.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301788",
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355851.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302055",
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355852.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302321",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355853.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302586",
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355854.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302852",
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355855.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303095",
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355856.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139742211",
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Gly90Ser",
        "hgvsWellDefined": "NP_001355857.1:p.Gly90Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303527",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.1:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355858.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.1:n.933G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.1:n.938G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138659",
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.5:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_000271.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646087",
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.3:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001121084.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475096",
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.3:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001245391.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475432",
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001245392.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475766",
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001245393.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476098",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.3:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001245394.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940056",
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001297087.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940527",
      "coordinates": [
        {
          "allele": "A",
          "end": 2057,
          "referenceAllele": "G",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001297089.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940706",
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.3:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001297090.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292559",
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355816.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292892",
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355817.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293224",
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355818.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293557",
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355819.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293890",
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355820.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294227",
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355821.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294564",
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "G",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355822.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294901",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355823.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.511G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.511G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Gly171Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Gly171Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296086",
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355828.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296265",
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355829.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296444",
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355830.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296623",
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355831.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296802",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355832.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296982",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355833.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297160",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355834.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297339",
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355835.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297518",
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355836.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297697",
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355837.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297876",
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355838.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298188",
      "coordinates": [
        {
          "allele": "A",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.2:c.712G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Gly238Ser",
        "hgvsWellDefined": "NP_001355839.1:p.Gly238Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298442",
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.2:c.514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Gly172Ser",
        "hgvsWellDefined": "NP_001355840.1:p.Gly172Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298748",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355841.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299063",
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355842.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299380",
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.2:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Gly171Ser",
        "hgvsWellDefined": "NP_001355843.1:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299692",
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355844.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300003",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355845.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300307",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.2:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_001355846.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300632",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Gly196Ser",
        "hgvsWellDefined": "NP_001355847.1:p.Gly196Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300957",
      "coordinates": [
        {
          "allele": "A",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Gly196Ser",
        "hgvsWellDefined": "NP_001355848.1:p.Gly196Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301277",
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.2:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Gly182Ser",
        "hgvsWellDefined": "NP_001355849.1:p.Gly182Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301544",
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355850.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301788",
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355851.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302055",
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355852.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302321",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355853.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302586",
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355854.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302852",
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355855.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303095",
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001355856.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139742211",
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Gly90Ser",
        "hgvsWellDefined": "NP_001355857.1:p.Gly90Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303527",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.2:c.61G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Gly21Ser",
        "hgvsWellDefined": "NP_001355858.1:p.Gly21Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332420",
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.6:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Gly171Ser",
        "hgvsWellDefined": "NP_001595.2:p.Gly171Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.2:n.933G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.2:n.938G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138659",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.469G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Gly157Ser",
        "hgvsWellDefined": "NP_000271.1:p.Gly157Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}