{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5933756",
  "communityStandardTitle": [
    "NM_001368894.2(PAX6):c.985T>C (p.Leu329=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=612908[alleleid]",
        "alleleId": 612908,
        "preferredName": "NM_001368894.2(PAX6):c.985T>C (p.Leu329=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/623768",
        "RCV": [
          "RCV000761769",
          "RCV001103480",
          "RCV001103481",
          "RCV001103482",
          "RCV001103483",
          "RCV002061032"
        ],
        "variationId": 623768
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-31815075-A-G",
        "id": "11-31815075-A-G",
        "variant": "11:31815075 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31815075A>G?assembly=hg19",
        "id": "chr11:g.31815075A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31793527A>G?assembly=hg38",
        "id": "chr11:g.31793527A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373147550",
        "rs": 373147550
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31815075-A-G?dataset=gnomad_r2_1",
        "id": "11-31815075-A-G",
        "variant": "11:31815075 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31793527-A-G?dataset=gnomad_r3",
        "id": "11-31793527-A-G",
        "variant": "11:31793527 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31793527-A-G?dataset=gnomad_r4",
        "id": "11-31793527-A-G",
        "variant": "11:31793527 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 31793527,
          "referenceAllele": "A",
          "start": 31793526
        }
      ],
      "hgvs": [
        "NC_000011.10:g.31793527A>G",
        "CM000673.2:g.31793527A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 31815075,
          "referenceAllele": "A",
          "start": 31815074
        }
      ],
      "hgvs": [
        "NC_000011.9:g.31815075A>G",
        "CM000673.1:g.31815075A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 31771651,
          "referenceAllele": "A",
          "start": 31771650
        }
      ],
      "hgvs": [
        "NC_000011.8:g.31771651A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29435,
          "referenceAllele": "T",
          "start": 29434
        }
      ],
      "hgvs": [
        "NG_008679.1:g.29435T>C",
        "LRG_720:g.29435T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1389,
          "referenceAllele": "T",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.13:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1513,
          "referenceAllele": "T",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.7:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.7:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.7:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.3:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.9:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.5:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "T",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.10:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.6:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.7:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.8:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.6:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.7:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.3:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000438681.6:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404356.2:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.6:n.533T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3263,
          "referenceAllele": "T",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.7:n.3263T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2109,
          "referenceAllele": "T",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.6:n.2109T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.2:n.1473T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000481563.6:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492205.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "referenceAllele": "T",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.7:n.1749T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1912,
          "referenceAllele": "T",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.6:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "referenceAllele": "T",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000530373.6:n.553T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "T",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000531910.6:n.1650T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.7:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "T",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638250.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491365.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1617,
          "referenceAllele": "T",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638346.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491267.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2518,
          "referenceAllele": "T",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638629.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490971.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "T",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638685.1:c.430T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492316.1:p.Leu144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "T",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638696.1:c.877T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492756.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638755.1:c.835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492181.1:p.Leu279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2399,
          "referenceAllele": "T",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638762.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491517.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638802.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492437.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "T",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638853.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491280.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638878.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492081.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2092,
          "referenceAllele": "T",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638913.1:n.2092T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638914.3:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492315.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 988,
          "referenceAllele": "T",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638963.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491948.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638965.1:c.340T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492769.1:p.Leu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639006.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491210.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639034.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491679.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2066,
          "referenceAllele": "T",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639054.1:n.2066T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "T",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639061.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491324.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2354,
          "referenceAllele": "T",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639079.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492129.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2436,
          "referenceAllele": "T",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639109.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491904.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639386.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492658.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "T",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639394.1:c.*824T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492177.1:n.*824T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639409.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492476.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639548.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491944.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "T",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639916.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490963.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2425,
          "referenceAllele": "T",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639943.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491229.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "T",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639950.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491862.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640038.1:n.470T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1049,
          "referenceAllele": "T",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640125.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492166.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2222,
          "referenceAllele": "T",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640172.1:n.2222T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "T",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640242.1:c.946T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492409.1:p.Leu316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640287.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492822.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640335.1:c.430T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492808.1:p.Leu144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640368.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492024.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.985T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.985T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Leu329="
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Leu329="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "T",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640431.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491779.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "referenceAllele": "T",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640460.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492802.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1378,
          "referenceAllele": "T",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640610.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491295.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "T",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640613.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492587.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "T",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640684.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491492.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1762,
          "referenceAllele": "T",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640735.1:n.1762T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "T",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640766.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491214.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640872.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491065.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "T",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640963.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492397.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "T",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640975.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491872.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000643871.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495109.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.12:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1513,
          "referenceAllele": "T",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.6:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.6:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "T",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.6:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.8:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.4:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.9:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.5:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.6:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.7:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.5:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.5:n.549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2518,
          "referenceAllele": "T",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.6:n.2518T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "T",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.6:n.2136T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "referenceAllele": "T",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000530373.5:n.528T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000532916.5:n.273T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5849,
          "referenceAllele": "T",
          "start": 5848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000533333.5:n.5849T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.5:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138738",
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.4:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646186",
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475194",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475531",
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475864",
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476197",
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "referenceAllele": "T",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940155",
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "T",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940488",
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "T",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310159.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297088.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940626",
      "coordinates": [
        {
          "allele": "C",
          "end": 2709,
          "referenceAllele": "T",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940805",
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332538",
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "T",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.5:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252954.3:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253011.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "referenceAllele": "T",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252955.3:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253012.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252956.3:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253013.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1592,
          "referenceAllele": "T",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252958.3:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253015.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "T",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_006718246.2:c.742T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718309.1:p.Leu248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1336,
          "referenceAllele": "T",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520146.1:c.1189T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518448.1:p.Leu397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "T",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520147.1:c.1147T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518449.1:p.Leu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "T",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520148.1:c.988T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518450.1:p.Leu330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2274,
          "referenceAllele": "T",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520149.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518451.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520150.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518452.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "T",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520151.1:c.946T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518453.1:p.Leu316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "referenceAllele": "T",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520152.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518454.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520153.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518455.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646186",
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475194",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476197",
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940805",
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "T",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292657",
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "T",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292990",
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293323",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293656",
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294326",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294663",
      "coordinates": [
        {
          "allele": "C",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828295000",
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296185",
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296364",
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296543",
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296722",
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296901",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297080",
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297259",
      "coordinates": [
        {
          "allele": "C",
          "end": 1738,
          "referenceAllele": "T",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297438",
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297617",
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "T",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297796",
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "T",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297975",
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298284",
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "T",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.1:c.1186T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Leu396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298541",
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.1:c.988T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Leu330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298846",
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299162",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299478",
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.1:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "T",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300102",
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300405",
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.1:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300731",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.1:c.1060T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Leu354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301055",
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.1:c.1060T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Leu354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301376",
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.1:c.1018T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Leu340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301887",
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302153",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302419",
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302685",
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302951",
      "coordinates": [
        {
          "allele": "C",
          "end": 1210,
          "referenceAllele": "T",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303193",
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.1:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303446",
      "coordinates": [
        {
          "allele": "C",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.1:c.742T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Leu248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303590",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.1:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303675",
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.1:c.340T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Leu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.1:n.1324T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "T",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.1:n.1329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138738",
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.5:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646186",
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.3:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475194",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "T",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.3:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475531",
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475864",
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476197",
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.3:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940155",
      "coordinates": [
        {
          "allele": "C",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940626",
      "coordinates": [
        {
          "allele": "C",
          "end": 2531,
          "referenceAllele": "T",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940805",
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "T",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.3:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292657",
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "T",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292990",
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293323",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "T",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293656",
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "T",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294326",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294663",
      "coordinates": [
        {
          "allele": "C",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828295000",
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.985T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.985T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Leu329="
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Leu329="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296185",
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296364",
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296543",
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296722",
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296901",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297080",
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297259",
      "coordinates": [
        {
          "allele": "C",
          "end": 1738,
          "referenceAllele": "T",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297438",
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297617",
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "T",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297796",
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "T",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297975",
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298284",
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "T",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.2:c.1186T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Leu396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298541",
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.2:c.988T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:p.Leu330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298846",
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299162",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299478",
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.2:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828299790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "T",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300102",
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300405",
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.2:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300731",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.2:c.1060T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Leu354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301055",
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.2:c.1060T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Leu354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301376",
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.2:c.1018T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Leu340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301887",
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302153",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302419",
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302685",
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302951",
      "coordinates": [
        {
          "allele": "C",
          "end": 1210,
          "referenceAllele": "T",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303193",
      "coordinates": [
        {
          "allele": "C",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.2:c.784T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Leu262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303446",
      "coordinates": [
        {
          "allele": "C",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.2:c.742T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Leu248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303590",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:p.Leu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303675",
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.2:c.340T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Leu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332538",
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.6:c.985T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Leu329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.2:n.1324T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "T",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.2:n.1329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138738",
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Leu315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}