{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5933676",
  "communityStandardTitle": [
    "NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677011[alleleid]",
        "alleleId": 1677011,
        "preferredName": "NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684987",
        "RCV": [
          "RCV002248079",
          "RCV003093992"
        ],
        "variationId": 1684987
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-31812317-G-T",
        "id": "11-31812317-G-T",
        "variant": "11:31812317 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31812317G>T?assembly=hg19",
        "id": "chr11:g.31812317G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.31790769G>T?assembly=hg38",
        "id": "chr11:g.31790769G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200015827",
        "rs": 200015827
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31812317-G-T?dataset=gnomad_r2_1",
        "id": "11-31812317-G-T",
        "variant": "11:31812317 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31790769-G-T?dataset=gnomad_r3",
        "id": "11-31790769-G-T",
        "variant": "11:31790769 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-31790769-G-T?dataset=gnomad_r4",
        "id": "11-31790769-G-T",
        "variant": "11:31790769 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31790769,
          "referenceAllele": "G",
          "start": 31790768
        }
      ],
      "hgvs": [
        "NC_000011.10:g.31790769G>T",
        "CM000673.2:g.31790769G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31812317,
          "referenceAllele": "G",
          "start": 31812316
        }
      ],
      "hgvs": [
        "NC_000011.9:g.31812317G>T",
        "CM000673.1:g.31812317G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 31768893,
          "referenceAllele": "G",
          "start": 31768892
        }
      ],
      "hgvs": [
        "NC_000011.8:g.31768893G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32193,
          "referenceAllele": "C",
          "start": 32192
        }
      ],
      "hgvs": [
        "NG_008679.1:g.32193C>A",
        "LRG_720:g.32193C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.13:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000241001.8:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.7:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000368401.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.7:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368403.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.7:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.3:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368406.3:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.9:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.5:p.Pro322Gln",
        "hgvsWellDefined": "ENSP00000368410.5:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.10:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.6:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000368418.6:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.7:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000368424.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.8:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368427.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.6:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000404100.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.7:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.3:p.Pro322Gln",
        "hgvsWellDefined": "ENSP00000388132.3:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.6:n.714C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3444,
          "referenceAllele": "C",
          "start": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.7:n.3444C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.6:n.2290C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4231,
          "referenceAllele": "C",
          "start": 4230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.2:n.4231C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000481563.6:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492205.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000492205.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1838,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1838,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.7:n.1839-750C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.6:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000431585.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000530373.6:n.734C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.7:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000480026.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638250.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491365.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491365.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "C",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638346.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491267.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491267.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2699,
          "referenceAllele": "C",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638629.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490971.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000490971.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1378,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638685.1:c.520-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492316.1:n.520-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638696.1:c.1058C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492756.1:p.Pro353Gln",
        "hgvsWellDefined": "ENSP00000492756.1:p.Pro353Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638755.1:c.1016C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492181.1:p.Pro339Gln",
        "hgvsWellDefined": "ENSP00000492181.1:p.Pro339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "C",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638762.1:c.716C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638802.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492437.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000492437.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638853.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491280.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491280.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "referenceAllele": "C",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638913.1:n.2273C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638914.3:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492315.2:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000492315.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1077,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638963.1:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491948.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638965.1:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492769.1:p.Pro174Gln",
        "hgvsWellDefined": "ENSP00000492769.1:p.Pro174Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639006.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491210.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491210.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639054.1:n.2247C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639061.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491324.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491324.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639109.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491904.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491904.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639386.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492658.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000492658.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639394.1:c.*1005C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492177.1:n.*1005C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639409.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492476.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000492476.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639548.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491944.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491944.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639916.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490963.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000490963.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639950.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491862.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000491862.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640038.1:n.651C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640125.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492166.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000492166.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640287.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492822.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000492822.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640335.1:c.611C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492808.1:p.Pro204Gln",
        "hgvsWellDefined": "ENSP00000492808.1:p.Pro204Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640368.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492024.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000492024.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.1166C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.1166C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Pro389Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Pro389Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640460.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492802.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000492802.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640610.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491295.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000491295.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640613.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492587.1:p.Pro322Gln",
        "hgvsWellDefined": "ENSP00000492587.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640735.1:n.1943C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640766.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491214.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491214.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "C",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640872.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491065.1:p.Pro239Gln",
        "hgvsWellDefined": "ENSP00000491065.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1193,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640963.1:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492397.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640975.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491872.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000491872.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000643871.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495109.1:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000495109.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.12:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000241001.8:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.6:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000368401.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.6:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368403.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.6:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368406.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.8:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.4:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000368410.4:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.9:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.5:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368418.5:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.6:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000368424.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.7:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Pro375Gln",
        "hgvsWellDefined": "ENSP00000368427.2:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.5:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000404100.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.5:n.730C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2699,
          "referenceAllele": "C",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000470027.6:n.2699C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.1:n.541C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000494377.6:n.2317C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6030,
          "referenceAllele": "C",
          "start": 6029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000533333.5:n.6030C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.5:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Pro389Gln",
        "hgvsWellDefined": "ENSP00000480026.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107153",
      "coordinates": [
        {
          "allele": "A",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.4:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_000271.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646224",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019896"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475569",
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001245392.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001245393.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476235",
      "coordinates": [
        {
          "allele": "A",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940193",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001297087.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940664",
      "coordinates": [
        {
          "allele": "A",
          "end": 2890,
          "referenceAllele": "C",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001297089.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940843",
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001297090.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1623,
          "referenceAllele": "C",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.5:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Pro389Gln",
        "hgvsWellDefined": "NP_001595.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252954.3:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253011.1:p.Pro389Gln",
        "hgvsWellDefined": "XP_005253011.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252955.3:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253012.1:p.Pro375Gln",
        "hgvsWellDefined": "XP_005253012.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252956.3:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253013.1:p.Pro375Gln",
        "hgvsWellDefined": "XP_005253013.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252958.3:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253015.1:p.Pro239Gln",
        "hgvsWellDefined": "XP_005253015.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_006718246.2:c.923C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718309.1:p.Pro308Gln",
        "hgvsWellDefined": "XP_006718309.1:p.Pro308Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520146.1:c.1370C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518448.1:p.Pro457Gln",
        "hgvsWellDefined": "XP_011518448.1:p.Pro457Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520147.1:c.1328C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518449.1:p.Pro443Gln",
        "hgvsWellDefined": "XP_011518449.1:p.Pro443Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520148.1:c.1169C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518450.1:p.Pro390Gln",
        "hgvsWellDefined": "XP_011518450.1:p.Pro390Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520149.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518451.1:p.Pro389Gln",
        "hgvsWellDefined": "XP_011518451.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520150.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518452.1:p.Pro389Gln",
        "hgvsWellDefined": "XP_011518452.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520151.1:c.1127C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518453.1:p.Pro376Gln",
        "hgvsWellDefined": "XP_011518453.1:p.Pro376Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520152.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518454.1:p.Pro322Gln",
        "hgvsWellDefined": "XP_011518454.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520153.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518455.1:p.Pro239Gln",
        "hgvsWellDefined": "XP_011518455.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646224",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476235",
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940843",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001297090.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292695",
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355816.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293028",
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355817.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293361",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355818.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293694",
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355819.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294027",
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.1:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355820.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294364",
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355821.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294701",
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355822.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828295038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.1:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355823.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296223",
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355828.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355829.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355830.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296760",
      "coordinates": [
        {
          "allele": "A",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355831.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296939",
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355832.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297118",
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355833.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297297",
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355834.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297476",
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355835.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297655",
      "coordinates": [
        {
          "allele": "A",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355836.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355837.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298013",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.1:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355838.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573212867",
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.1:c.1367C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Pro456Gln",
        "hgvsWellDefined": "NP_001355839.1:p.Pro456Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1358,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.1:c.1078-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:n.1078-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1598,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.1:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1496,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.1:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1500,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.1:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1579,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.1:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1454,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.1:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.1:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300769",
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.1:c.1241C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Pro414Gln",
        "hgvsWellDefined": "NP_001355847.1:p.Pro414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301093",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.1:c.1241C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Pro414Gln",
        "hgvsWellDefined": "NP_001355848.1:p.Pro414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301414",
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.1:c.1199C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Pro400Gln",
        "hgvsWellDefined": "NP_001355849.1:p.Pro400Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1342,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.1:c.874-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:n.874-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301925",
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355851.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355852.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302457",
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355853.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302723",
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355854.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302989",
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355855.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303231",
      "coordinates": [
        {
          "allele": "A",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.1:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355856.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303484",
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.1:c.923C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Pro308Gln",
        "hgvsWellDefined": "NP_001355857.1:p.Pro308Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.1:c.625-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:n.625-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303713",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.1:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Pro174Gln",
        "hgvsWellDefined": "NP_001355859.1:p.Pro174Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.1:n.1414-750C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.1:n.1510C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107153",
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.5:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_000271.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825646224",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.3:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.3:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475569",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001245392.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826475902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001245393.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826476235",
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.3:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940193",
      "coordinates": [
        {
          "allele": "A",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001297087.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940664",
      "coordinates": [
        {
          "allele": "A",
          "end": 2712,
          "referenceAllele": "C",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310160.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297089.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001297089.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826940843",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310161.3:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297090.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001297090.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828292695",
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355816.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293028",
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355817.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293361",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355818.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828293694",
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355819.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294027",
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.2:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_001355820.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294364",
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355821.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828294701",
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355822.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828295038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.2:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Pro389Gln",
        "hgvsWellDefined": "NP_001355823.1:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.1166C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.1166C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Pro389Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Pro389Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296223",
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368899.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355828.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355828.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368900.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355829.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355829.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368901.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355830.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355830.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296760",
      "coordinates": [
        {
          "allele": "A",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368902.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355831.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355831.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828296939",
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368903.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355832.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355832.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297118",
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355833.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297297",
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355834.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297476",
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368906.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355835.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355835.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297655",
      "coordinates": [
        {
          "allele": "A",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368907.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355836.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355836.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828297834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368908.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355837.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355837.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298013",
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.2:c.716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:p.Pro239Gln",
        "hgvsWellDefined": "NP_001355838.1:p.Pro239Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573212867",
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.2:c.1367C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.Pro456Gln",
        "hgvsWellDefined": "NP_001355839.1:p.Pro456Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1358,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.2:c.1078-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:n.1078-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1598,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.2:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1496,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.2:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1500,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.2:c.1075-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:n.1075-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1579,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.2:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1454,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.2:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.2:c.1033-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:n.1033-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828300769",
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.2:c.1241C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Pro414Gln",
        "hgvsWellDefined": "NP_001355847.1:p.Pro414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301093",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.2:c.1241C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Pro414Gln",
        "hgvsWellDefined": "NP_001355848.1:p.Pro414Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301414",
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.2:c.1199C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Pro400Gln",
        "hgvsWellDefined": "NP_001355849.1:p.Pro400Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1342,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.2:c.874-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:n.874-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828301925",
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355851.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355852.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302457",
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355853.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302723",
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355854.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828302989",
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355855.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303231",
      "coordinates": [
        {
          "allele": "A",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.2:c.965C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Pro322Gln",
        "hgvsWellDefined": "NP_001355856.1:p.Pro322Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303484",
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.2:c.923C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Pro308Gln",
        "hgvsWellDefined": "NP_001355857.1:p.Pro308Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368929.2:c.625-750C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355858.1:n.625-750C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828303713",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368930.2:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355859.1:p.Pro174Gln",
        "hgvsWellDefined": "NP_001355859.1:p.Pro174Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.6:c.1166C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Pro389Gln",
        "hgvsWellDefined": "NP_001595.2:p.Pro389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 749,
          "referenceAllele": "C",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.2:n.1414-750C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.2:n.1510C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107153",
      "coordinates": [
        {
          "allele": "A",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.1124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Pro375Gln",
        "hgvsWellDefined": "NP_000271.1:p.Pro375Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}