{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1312098",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4804470",
        "active": true,
        "id": "COSM4804470"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4804471",
        "active": true,
        "id": "COSM4804471"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237970[alleleid]",
        "alleleId": 237970,
        "preferredName": "NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236478",
        "RCV": [
          "RCV000225453",
          "RCV001069480",
          "RCV001376283",
          "RCV001833240",
          "RCV003454681",
          "RCV003454682"
        ],
        "variationId": 236478
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-197396763-G-A",
        "id": "1-197396763-G-A",
        "variant": "1:197396763 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197396763G>A?assembly=hg19",
        "id": "chr1:g.197396763G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197427633G>A?assembly=hg38",
        "id": "chr1:g.197427633G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767648174",
        "rs": 767648174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197396763-G-A?dataset=gnomad_r2_1",
        "id": "1-197396763-G-A",
        "variant": "1:197396763 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197427633-G-A?dataset=gnomad_r3",
        "id": "1-197427633-G-A",
        "variant": "1:197427633 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197427633-G-A?dataset=gnomad_r4",
        "id": "1-197427633-G-A",
        "variant": "1:197427633 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197427633,
          "referenceAllele": "G",
          "start": 197427632
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197427633G>A",
        "CM000663.2:g.197427633G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197396763,
          "referenceAllele": "G",
          "start": 197396762
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197396763G>A",
        "CM000663.1:g.197396763G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 195663386,
          "referenceAllele": "G",
          "start": 195663385
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195663386G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164356,
          "referenceAllele": "G",
          "start": 164355
        }
      ],
      "hgvs": [
        "NG_008483.1:g.164356G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231172,
          "referenceAllele": "G",
          "start": 231171
        }
      ],
      "hgvs": [
        "NG_008483.2:g.231172G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Gly770Ser",
        "hgvsWellDefined": "ENSP00000356370.3:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2308G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2308G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Gly770Ser"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Gly770Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Gly770Ser",
        "hgvsWellDefined": "ENSP00000491102.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Gly397Ser",
        "hgvsWellDefined": "ENSP00000505267.1:p.Gly397Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:p.Gly151Ser",
        "hgvsWellDefined": "ENSP00000356367.1:p.Gly151Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.1972G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Gly658Ser",
        "hgvsWellDefined": "ENSP00000356369.2:p.Gly658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Gly770Ser",
        "hgvsWellDefined": "ENSP00000356370.3:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000480086.2:n.209G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Gly770Ser",
        "hgvsWellDefined": "ENSP00000433932.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.2101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Gly701Ser",
        "hgvsWellDefined": "ENSP00000438786.1:p.Gly701Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5677,
          "referenceAllele": "G",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.2128+5677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:n.2128+5677G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826192233",
      "coordinates": [
        {
          "allele": "A",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.1972G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Gly658Ser",
        "hgvsWellDefined": "NP_001180569.1:p.Gly658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2440,
          "referenceAllele": "G",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.2101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Gly701Ser",
        "hgvsWellDefined": "NP_001244894.1:p.Gly701Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5677,
          "referenceAllele": "G",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.2128+5677G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5677G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485877",
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Gly770Ser",
        "hgvsWellDefined": "NP_957705.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.2309G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.2517G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Gly770Ser",
        "hgvsWellDefined": "XP_011507667.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Gly770Ser",
        "hgvsWellDefined": "XP_011507668.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Gly770Ser",
        "hgvsWellDefined": "XP_011507669.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1891,
          "referenceAllele": "G",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.1726G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Gly576Ser",
        "hgvsWellDefined": "XP_011507670.1:p.Gly576Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Gly251Ser",
        "hgvsWellDefined": "XP_011507671.1:p.Gly251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Gly770Ser",
        "hgvsWellDefined": "XP_011507667.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Gly251Ser",
        "hgvsWellDefined": "XP_011507671.1:p.Gly251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.1465G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Gly489Ser",
        "hgvsWellDefined": "XP_016856340.1:p.Gly489Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Gly770Ser",
        "hgvsWellDefined": "XP_016856341.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485877",
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Gly770Ser",
        "hgvsWellDefined": "NP_957705.1:p.Gly770Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2308G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2308G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Gly770Ser"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Gly770Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826192233",
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "G",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.1972G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Gly658Ser",
        "hgvsWellDefined": "NP_001180569.1:p.Gly658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2398,
          "referenceAllele": "G",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.2101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Gly701Ser",
        "hgvsWellDefined": "NP_001244894.1:p.Gly701Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2261,
          "referenceAllele": "G",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.2261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.2469G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "endIntronDirection": "+",
          "endIntronOffset": 5677,
          "referenceAllele": "G",
          "start": 2289,
          "startIntronDirection": "+",
          "startIntronOffset": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.2128+5677G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5677G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}