{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14128452",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.1637-2683T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28205564A>G?assembly=hg19",
        "id": "chr15:g.28205564A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.27960418A>G?assembly=hg38",
        "id": "chr15:g.27960418A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4778214",
        "rs": 4778214
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28205564-A-G?dataset=gnomad_r2_1",
        "id": "15-28205564-A-G",
        "variant": "15:28205564 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-27960418-A-G?dataset=gnomad_r3",
        "id": "15-27960418-A-G",
        "variant": "15:27960418 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-27960418-A-G?dataset=gnomad_r4",
        "id": "15-27960418-A-G",
        "variant": "15:27960418 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 27960418,
          "referenceAllele": "A",
          "start": 27960417
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27960418A>G",
        "CM000677.2:g.27960418A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 28205564,
          "referenceAllele": "A",
          "start": 28205563
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28205564A>G",
        "CM000677.1:g.28205564A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 25879159,
          "referenceAllele": "A",
          "start": 25879158
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25879159A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143895,
          "referenceAllele": "T",
          "start": 143894
        }
      ],
      "hgvs": [
        "NG_009846.1:g.143895T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1637-2683T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1637-2683T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:n.1637-2683T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:n.1637-2683T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.1565-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:n.1565-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1792,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.1565-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:n.1565-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3018,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 3018,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1774,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1774,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3016,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 3016,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2945,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 2945,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.1589-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:n.1589-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2943,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 2943,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.1589-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:n.1589-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 2879,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.1523-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:n.1523-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3017,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 3017,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3020,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 3020,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521646.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519948.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3020,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 3020,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521647.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519949.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3021,
          "endIntronDirection": "-",
          "endIntronOffset": 112,
          "referenceAllele": "T",
          "start": 3021,
          "startIntronDirection": "-",
          "startIntronOffset": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_931843.1:n.3022-113T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1776,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1727,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2224,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 2224,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1677,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.1589-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:n.1589-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1677,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.1589-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:n.1589-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1611,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1611,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.1523-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:n.1523-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2243,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 2243,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.1466-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:n.1466-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022265.1:c.1661-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877754.1:n.1661-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 112,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_001751294.1:n.1750-113T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1749,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1749,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.1637-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:n.1637-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1637-2683T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1637-2683T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:n.1637-2683T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:n.1637-2683T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "endIntronDirection": "-",
          "endIntronOffset": 2682,
          "referenceAllele": "T",
          "start": 1677,
          "startIntronDirection": "-",
          "startIntronOffset": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.1565-2683T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:n.1565-2683T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}