{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695213607",
  "communityStandardTitle": [
    "NM_001368894.2(PAX6):c.1_2delinsCA (p.Met1Gln)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "TG",
          "end": 31806411,
          "referenceAllele": "AT",
          "start": 31806409
        }
      ],
      "hgvs": [
        "NC_000011.10:g.31806410_31806411delinsTG",
        "CM000673.2:g.31806410_31806411delinsTG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "TG",
          "end": 31827959,
          "referenceAllele": "AT",
          "start": 31827957
        }
      ],
      "hgvs": [
        "NC_000011.9:g.31827958_31827959delinsTG",
        "CM000673.1:g.31827958_31827959delinsTG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "TG",
          "end": 31784535,
          "referenceAllele": "AT",
          "start": 31784533
        }
      ],
      "hgvs": [
        "NC_000011.8:g.31784534_31784535delinsTG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 16552,
          "referenceAllele": "AT",
          "start": 16550
        }
      ],
      "hgvs": [
        "NG_008679.1:g.16551_16552delinsCA",
        "LRG_720:g.16551_16552delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001164"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 448,
          "referenceAllele": "AT",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.13:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000241001.8:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741099"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 530,
          "referenceAllele": "AT",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368401.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752173"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 892,
          "referenceAllele": "AT",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368403.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752174"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 463,
          "referenceAllele": "AT",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.3:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368406.3:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752175"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.9:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.5:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368410.5:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752176"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.10:c.-551_-550delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.6:n.-551_-550delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752178"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 283,
          "referenceAllele": "AT",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368424.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752179"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 283,
          "referenceAllele": "AT",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.8:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368427.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752180"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 437,
          "referenceAllele": "AT",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000404100.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754772"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 420,
          "referenceAllele": "AT",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.3:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000388132.3:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754997"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 437,
          "referenceAllele": "AT",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000438681.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404356.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000404356.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755709"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 480,
          "referenceAllele": "AT",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000455099.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397384.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000397384.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756498"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000471303.6:n.423_424delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757021"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 532,
          "referenceAllele": "AT",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000474783.2:n.531_532delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757128"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 971,
          "referenceAllele": "AT",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000431585.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758876"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 867,
          "referenceAllele": "AT",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000525535.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436365.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000436365.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758911"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 89,
          "referenceAllele": "AT",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000534390.2:n.88_89delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759396"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000480026.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761660"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 360,
          "referenceAllele": "AT",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638250.1:c.-277_-276delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491365.1:n.-277_-276delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764429"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 861,
          "referenceAllele": "AT",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638685.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492316.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492316.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764650"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 2,
          "referenceAllele": "AT",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638696.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492756.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492756.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764655"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 2,
          "referenceAllele": "AT",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638755.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492181.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492181.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764687"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 447,
          "referenceAllele": "AT",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638913.1:n.446_447delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764765"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638914.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492315.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492315.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764766"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 47,
          "referenceAllele": "AT",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638963.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491948.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491948.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764792"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 11399,
          "referenceAllele": "AT",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 11397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000638965.1:c.-81+11398_-81+11399delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492769.1:n.-81+11398_-81+11399delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764793"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 535,
          "referenceAllele": "AT",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639034.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491679.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491679.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764827"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 421,
          "referenceAllele": "AT",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639054.1:n.420_421delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764840"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 371,
          "referenceAllele": "AT",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639394.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492177.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492177.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765006"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 409,
          "referenceAllele": "AT",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639409.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492476.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492476.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765012"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 447,
          "referenceAllele": "AT",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639916.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490963.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000490963.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765241"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 460,
          "referenceAllele": "AT",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639920.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492111.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492111.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765242"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1643,
          "referenceAllele": "AT",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639943.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491229.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491229.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765252"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 878,
          "referenceAllele": "AT",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000639950.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491862.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491862.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765255"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 535,
          "referenceAllele": "AT",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640172.1:n.534_535delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765368"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 3575,
          "referenceAllele": "AT",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640242.1:c.14-3577_14-3576delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492409.1:n.14-3577_14-3576delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765398"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 220,
          "referenceAllele": "AT",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640287.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492822.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492822.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765421"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 349,
          "referenceAllele": "AT",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640335.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492808.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492808.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765446"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640368.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492024.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492024.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.1_2delinsCA"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.1_2delinsCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Met1Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Met1Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 927,
          "referenceAllele": "AT",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640431.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491779.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491779.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765494"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 497,
          "referenceAllele": "AT",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640460.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492802.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492802.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765507"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 437,
          "referenceAllele": "AT",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640610.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491295.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491295.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765580"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 421,
          "referenceAllele": "AT",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640613.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492587.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492587.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765581"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 294,
          "referenceAllele": "AT",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640684.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491492.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491492.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765617"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 121,
          "referenceAllele": "AT",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640963.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492397.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000492397.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765751"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 512,
          "referenceAllele": "AT",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000640975.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491872.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000491872.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765758"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 535,
          "referenceAllele": "AT",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000643871.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495109.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000495109.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767517"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 343,
          "referenceAllele": "AT",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000241001.12:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241001.8:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000241001.8:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249157"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 530,
          "referenceAllele": "AT",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379107.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368401.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368401.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272346"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 892,
          "referenceAllele": "AT",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379109.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368403.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368403.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272348"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 348,
          "referenceAllele": "AT",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379111.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368406.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368406.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272349"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 437,
          "referenceAllele": "AT",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379115.8:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368410.4:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368410.4:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272351"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 881,
          "referenceAllele": "AT",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379123.9:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368418.5:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368418.5:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272355"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 283,
          "referenceAllele": "AT",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379129.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368424.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368424.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272359"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 283,
          "referenceAllele": "AT",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000379132.7:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368427.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000368427.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272360"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000419022.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404100.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000404100.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285683"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 384,
          "referenceAllele": "AT",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000423822.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388132.2:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000388132.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287955"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 341,
          "referenceAllele": "AT",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000438681.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404356.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000404356.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295055"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 126,
          "referenceAllele": "AT",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000455099.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397384.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000397384.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302876"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 11399,
          "referenceAllele": "AT",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 11397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000464174.5:n.129+11398_129+11399delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308064"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 403,
          "referenceAllele": "AT",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000524853.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431585.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000431585.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350953"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 673,
          "referenceAllele": "AT",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000525535.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436365.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000436365.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351543"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 421,
          "referenceAllele": "AT",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000527769.5:n.420_421delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353413"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 458,
          "referenceAllele": "AT",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000532175.5:n.457_458delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357151"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 414,
          "referenceAllele": "AT",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000533333.5:n.413_414delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358121"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 409,
          "referenceAllele": "AT",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "ENST00000606377.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480026.1:p.Met1Gln",
        "hgvsWellDefined": "ENSP00000480026.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399702"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 557,
          "referenceAllele": "AT",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.4:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Met1Gln",
        "hgvsWellDefined": "NP_000271.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006341"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011650"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019896"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 409,
          "referenceAllele": "AT",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245392.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019897"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 459,
          "referenceAllele": "AT",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245393.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019898"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 445,
          "referenceAllele": "AT",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019899"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 512,
          "referenceAllele": "AT",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001297087.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026395"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 130,
          "referenceAllele": "AT",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310159.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297088.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001297088.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026396"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 459,
          "referenceAllele": "AT",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Met1Gln",
        "hgvsWellDefined": "NP_001595.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026945"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 473,
          "referenceAllele": "AT",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252954.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253011.1:p.Met1Gln",
        "hgvsWellDefined": "XP_005253011.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060099"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 497,
          "referenceAllele": "AT",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252955.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253012.1:p.Met1Gln",
        "hgvsWellDefined": "XP_005253012.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060100"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 892,
          "referenceAllele": "AT",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_005252956.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253013.1:p.Met1Gln",
        "hgvsWellDefined": "XP_005253013.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060101"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 473,
          "referenceAllele": "AT",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_006718246.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718309.1:p.Met1Gln",
        "hgvsWellDefined": "XP_006718309.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072538"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1291,
          "referenceAllele": "AT",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520149.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518451.1:p.Met1Gln",
        "hgvsWellDefined": "XP_011518451.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087318"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 382,
          "referenceAllele": "AT",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520150.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518452.1:p.Met1Gln",
        "hgvsWellDefined": "XP_011518452.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087319"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 473,
          "referenceAllele": "AT",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "XM_011520152.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518454.1:p.Met1Gln",
        "hgvsWellDefined": "XP_011518454.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087321"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676915"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680853"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680854"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 549,
          "referenceAllele": "AT",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355816.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691449"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 429,
          "referenceAllele": "AT",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355817.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691450"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 184,
          "referenceAllele": "AT",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355818.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691451"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 467,
          "referenceAllele": "AT",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355819.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691452"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 463,
          "referenceAllele": "AT",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355820.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691453"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355821.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691454"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 498,
          "referenceAllele": "AT",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355822.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691455"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355823.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691456"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.1:c.-277_-276delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:n.-277_-276delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691466"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.1:c.-781_-780delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:n.-781_-780delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691467"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 4418,
          "referenceAllele": "AT",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 4416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.1:c.-268+4417_-268+4418delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:n.-268+4417_-268+4418delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298041",
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.1:c.101_102delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.His34Pro",
        "hgvsWellDefined": "NP_001355839.1:p.His34Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691472"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 294,
          "endIntronDirection": "-",
          "endIntronOffset": 3575,
          "referenceAllele": "AT",
          "start": 294,
          "startIntronDirection": "-",
          "startIntronOffset": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.1:c.14-3577_14-3576delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:n.14-3577_14-3576delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691473"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355841.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691474"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355842.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691475"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355843.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691476"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 549,
          "referenceAllele": "AT",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355844.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691477"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355845.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691478"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355846.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691479"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355847.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691480"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355848.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691481"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355849.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691482"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355850.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691483"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 528,
          "referenceAllele": "AT",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355851.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691484"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355852.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691485"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 463,
          "referenceAllele": "AT",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355853.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691486"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355854.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691487"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355855.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691488"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355856.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691489"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.1:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355857.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691490"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.1:n.423_424delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705223"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.1:n.470_471delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705224"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 325,
          "referenceAllele": "AT",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.5:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Met1Gln",
        "hgvsWellDefined": "NP_000271.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710820"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001127612.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121084.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001121084.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712221"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258462.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245391.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245391.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714982"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 429,
          "referenceAllele": "AT",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258463.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245392.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245392.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714983"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258464.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245393.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245393.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714984"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001258465.3:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245394.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001245394.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714985"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 373,
          "referenceAllele": "AT",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001310158.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001297087.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001297087.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717309"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 549,
          "referenceAllele": "AT",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368887.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355816.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355816.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721095"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 429,
          "referenceAllele": "AT",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368888.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355817.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355817.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721096"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 184,
          "referenceAllele": "AT",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368889.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355818.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355818.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721097"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 467,
          "referenceAllele": "AT",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368890.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355819.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355819.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721098"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 463,
          "referenceAllele": "AT",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368891.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355820.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355820.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721099"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368892.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355821.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355821.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721100"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 498,
          "referenceAllele": "AT",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368893.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355822.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355822.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721101"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368894.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355823.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355823.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640368.2:c.1_2delinsCA"
          },
          "RefSeq": {
            "hgvs": "NM_001368894.2:c.1_2delinsCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492024.1:p.Met1Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001355823.1:p.Met1Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368904.2:c.-277_-276delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355833.1:n.-277_-276delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721108"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368905.2:c.-781_-780delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355834.1:n.-781_-780delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721109"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 4418,
          "referenceAllele": "AT",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 4416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368909.2:c.-268+4417_-268+4418delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355838.1:n.-268+4417_-268+4418delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828298041",
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368910.2:c.101_102delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355839.1:p.His34Pro",
        "hgvsWellDefined": "NP_001355839.1:p.His34Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721114"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 294,
          "endIntronDirection": "-",
          "endIntronOffset": 3575,
          "referenceAllele": "AT",
          "start": 294,
          "startIntronDirection": "-",
          "startIntronOffset": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368911.2:c.14-3577_14-3576delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355840.1:n.14-3577_14-3576delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721115"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368912.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355841.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355841.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721116"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368913.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355842.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355842.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721117"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368914.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355843.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355843.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721118"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 549,
          "referenceAllele": "AT",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368915.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355844.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355844.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721119"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368916.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355845.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355845.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721120"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368917.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355846.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355846.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721121"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368918.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355847.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355847.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721122"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368919.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355848.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355848.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721123"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368920.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355849.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355849.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721124"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368921.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355850.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355850.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721125"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 528,
          "referenceAllele": "AT",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368922.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355851.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355851.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721126"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368923.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355852.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355852.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721127"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 463,
          "referenceAllele": "AT",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368924.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355853.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355853.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721128"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368925.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355854.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355854.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721129"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368926.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355855.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355855.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721130"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368927.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355856.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355856.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721131"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001368928.2:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355857.1:p.Met1Gln",
        "hgvsWellDefined": "NP_001355857.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721132"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 428,
          "referenceAllele": "AT",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_001604.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001595.2:p.Met1Gln",
        "hgvsWellDefined": "NP_001595.2:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727197"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 424,
          "referenceAllele": "AT",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160916.2:n.423_424delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731591"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 471,
          "referenceAllele": "AT",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NR_160917.2:n.470_471delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731592"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 526,
          "referenceAllele": "AT",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NM_000280.6:c.1_2delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000271.1:p.Met1Gln",
        "hgvsWellDefined": "NP_000271.1:p.Met1Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781557"
    }
  ],
  "type": "nucleotide"
}