{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5933808",
  "communityStandardTitle": [
    "NM_001368894.2(PAX6):c.753G>A (p.Val251=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4574314"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320166[alleleid]",
        "alleleId": 320166,
        "preferredName": "NM_001368894.2(PAX6):c.753G>A (p.Val251=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304357",
        "RCV": [
          "RCV000285944",
          "RCV000301339",
          "RCV000310966",
          "RCV000336368",
          "RCV000337620",
          "RCV000394809",
          "RCV000398566",
          "RCV001514487",
          "RCV001566375"
        ],
        "variationId": 304357
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-31815634-C-T",
        "id": "11-31815634-C-T",
        "variant": "11:31815634 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31815634C>T?assembly=hg19",
        "id": "chr11:g.31815634C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31794086C>T?assembly=hg38",
        "id": "chr11:g.31794086C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145329506",
        "rs": 145329506
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31815634-C-T?dataset=gnomad_r2_1",
        "id": "11-31815634-C-T",
        "variant": "11:31815634 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31794086-C-T?dataset=gnomad_r3",
        "id": "11-31794086-C-T",
        "variant": "11:31794086 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31794086-C-T?dataset=gnomad_r4",
        "id": "11-31794086-C-T",
        "variant": "11:31794086 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31794086,
          "referenceAllele": "C",
          "start": 31794085
        }
      ],
      "hgvs": [
        "NC_000011.10:g.31794086C>T",
        "CM000673.2:g.31794086C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31815634,
          "referenceAllele": "C",
          "start": 31815633
        }
      ],
      "hgvs": [
        "NC_000011.9:g.31815634C>T",
        "CM000673.1:g.31815634C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31772210,
          "referenceAllele": "C",
          "start": 31772209
        }
      ],
      "hgvs": [
        "NC_000011.8:g.31772210C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28876,
          "referenceAllele": "G",
          "start": 28875
        }
      ],
      "hgvs": [
        "NG_008679.1:g.28876G>A",
        "LRG_720:g.28876G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.13:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.7:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.7:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.7:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.3:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.9:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.5:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.10:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.6:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.7:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.8:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.6:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.7:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.3:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000438681.6:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404356.2:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.6:n.301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3031,
          "referenceAllele": "G",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.7:n.3031G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.6:n.1648G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.2:n.1241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000481563.6:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492205.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.7:n.1517G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.6:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000530373.6:n.321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "referenceAllele": "G",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000531910.6:n.1418G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.7:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638250.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491365.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638346.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491267.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2286,
          "referenceAllele": "G",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638629.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490971.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638685.1:c.198G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492316.1:p.Val66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638696.1:c.645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492756.1:p.Val215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638755.1:c.603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492181.1:p.Val201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638762.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491517.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638802.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492437.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638853.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491280.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638878.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492081.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "G",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638913.1:n.1860G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638914.3:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492315.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638963.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491948.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638965.1:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492769.1:p.Val36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639006.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491210.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639034.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491679.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "G",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639054.1:n.1834G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639061.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491324.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639079.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492129.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2204,
          "referenceAllele": "G",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639109.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491904.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639386.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492658.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639394.1:c.*592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492177.1:n.*592G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639409.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492476.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639548.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491944.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639916.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490963.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "G",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639943.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491229.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639950.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491862.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640038.1:n.238G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640125.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492166.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640172.1:n.1990G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640242.1:c.714G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492409.1:p.Val238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640287.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492822.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640335.1:c.198G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492808.1:p.Val66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640368.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492024.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.753G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.753G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Val251="
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Val251="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640431.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491779.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640460.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492802.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640610.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491295.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640613.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492587.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640684.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491492.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640735.1:n.1301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640766.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491214.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640872.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491065.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640963.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492397.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640975.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491872.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000643871.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495109.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.12:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.6:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.6:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.6:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.8:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.4:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.9:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.5:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.6:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.7:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.5:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.5:n.317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2286,
          "referenceAllele": "G",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.6:n.2286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1904,
          "referenceAllele": "G",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.6:n.1904G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000530373.5:n.296G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000531910.5:n.460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "G",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000532916.5:n.41G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5617,
          "referenceAllele": "G",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000533333.5:n.5617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.5:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138708",
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.4:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475493",
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475826",
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476159",
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940117",
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940450",
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "G",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310159.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297088.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940588",
      "coordinates": [
        {
          "allele": "A",
          "end": 2477,
          "referenceAllele": "G",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940767",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332495",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.5:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252954.3:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253011.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252955.3:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253012.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252956.3:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253013.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252958.3:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253015.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_006718246.2:c.510G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718309.1:p.Val170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520146.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518448.1:p.Val319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520147.1:c.915G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518449.1:p.Val305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "G",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520148.1:c.756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518450.1:p.Val252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520149.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518451.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520150.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518452.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520151.1:c.714G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518453.1:p.Val238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520152.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518454.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520153.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518455.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476159",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940767",
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292619",
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292952",
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293285",
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293618",
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293951",
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294288",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294625",
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294962",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296147",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296326",
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296505",
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296684",
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297042",
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297221",
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297400",
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1540,
          "referenceAllele": "G",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297758",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297937",
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298248",
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.1:c.954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Val318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298503",
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.1:c.756G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Val252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299124",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299440",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.1:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299752",
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300064",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.1:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300693",
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.1:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Val276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301017",
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.1:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Val276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301338",
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.1:c.786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Val262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301849",
      "coordinates": [
        {
          "allele": "A",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302115",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302381",
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302647",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302913",
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303155",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303408",
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.1:c.510G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Val170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303552",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303657",
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.1:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Val36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 283,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.1:n.1147-284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 283,
          "referenceAllele": "G",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.1:n.1152-284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138708",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.5:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.3:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.3:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475493",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475826",
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476159",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.3:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940117",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940588",
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940767",
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.3:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292619",
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292952",
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293285",
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293618",
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293951",
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294288",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294625",
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294962",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.753G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.753G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Val251="
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Val251="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296147",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296326",
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296505",
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296684",
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297042",
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297221",
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297400",
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1540,
          "referenceAllele": "G",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297758",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297937",
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298248",
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.2:c.954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Val318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298503",
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.2:c.756G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Val252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299124",
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299440",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.2:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299752",
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300064",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300367",
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.2:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300693",
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.2:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Val276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301017",
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.2:c.828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Val276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301338",
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.2:c.786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Val262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301849",
      "coordinates": [
        {
          "allele": "A",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302115",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302381",
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302647",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302913",
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303155",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.2:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303408",
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.2:c.510G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Val170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303552",
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.2:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Val101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303657",
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.2:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Val36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332495",
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.6:c.753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Val251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 283,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.2:n.1147-284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 283,
          "referenceAllele": "G",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.2:n.1152-284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138708",
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.711G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Val237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}