{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1984125260",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.5101C= (p.Arg1701=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033182",
        "rs": 111033182
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 77202357,
          "referenceAllele": "C",
          "start": 77202356
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77202357C=",
        "CM000673.2:g.77202357C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 76913402,
          "referenceAllele": "C",
          "start": 76913401
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76913402C=",
        "CM000673.1:g.76913402C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 76591050,
          "referenceAllele": "C",
          "start": 76591049
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76591050C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79093,
          "referenceAllele": "C",
          "start": 79092
        }
      ],
      "hgvs": [
        "NG_009086.1:g.79093C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79112,
          "referenceAllele": "C",
          "start": 79111
        }
      ],
      "hgvs": [
        "NG_009086.2:g.79112C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5391,
          "referenceAllele": "C",
          "start": 5390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.5101C="
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.5101C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Arg1701="
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Arg1701="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2942,
          "referenceAllele": "C",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.2942C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5301,
          "referenceAllele": "C",
          "start": 5300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.4954C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Arg1652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5373,
          "referenceAllele": "C",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.2527C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:p.Arg843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5253,
          "referenceAllele": "C",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.4987C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Arg1663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2637,
          "referenceAllele": "C",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.2637C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709285",
      "coordinates": [
        {
          "allele": "C",
          "end": 5373,
          "referenceAllele": "C",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5253,
          "referenceAllele": "C",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.4987C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Arg1663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.4984C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Arg1662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5412,
          "referenceAllele": "C",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.5092C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Arg1698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5307,
          "referenceAllele": "C",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.4987C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Arg1663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5304,
          "referenceAllele": "C",
          "start": 5303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.4984C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Arg1662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5305,
          "referenceAllele": "C",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.4987C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Arg1663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5421,
          "referenceAllele": "C",
          "start": 5420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5415,
          "referenceAllele": "C",
          "start": 5414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.5095C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Arg1699="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5103,
          "referenceAllele": "C",
          "start": 5102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.5068C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Arg1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5325,
          "referenceAllele": "C",
          "start": 5324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.5005C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Arg1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5196,
          "referenceAllele": "C",
          "start": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.4876C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Arg1626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5184,
          "referenceAllele": "C",
          "start": 5183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.4864C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Arg1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4965,
          "referenceAllele": "C",
          "start": 4964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.4837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Arg1613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5421,
          "referenceAllele": "C",
          "start": 5420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5422,
          "referenceAllele": "C",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5421,
          "referenceAllele": "C",
          "start": 5420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.5421C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5421,
          "referenceAllele": "C",
          "start": 5420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.5421C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5423,
          "referenceAllele": "C",
          "start": 5422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.5423C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5445,
          "referenceAllele": "C",
          "start": 5444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.5191C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Arg1731="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5054,
          "referenceAllele": "C",
          "start": 5053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.4837C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Arg1613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5200,
          "referenceAllele": "C",
          "start": 5199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.5185C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Arg1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5197,
          "referenceAllele": "C",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.5182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Arg1728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.5191C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Arg1731="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.5095C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Arg1699="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5092,
          "referenceAllele": "C",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.5077C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Arg1693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5089,
          "referenceAllele": "C",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.5074C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Arg1692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5089,
          "referenceAllele": "C",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.5074C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Arg1692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4969,
          "referenceAllele": "C",
          "start": 4968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.4954C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Arg1652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.5191C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Arg1731="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5092,
          "referenceAllele": "C",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.5077C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Arg1693="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.5206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.5206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.5206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "C",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.5206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709285",
      "coordinates": [
        {
          "allele": "C",
          "end": 5391,
          "referenceAllele": "C",
          "start": 5390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.5101C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Arg1701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.5101C="
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.5101C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Arg1701="
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Arg1701="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5277,
          "referenceAllele": "C",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.4987C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Arg1663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089130500",
      "coordinates": [
        {
          "allele": "C",
          "end": 5357,
          "referenceAllele": "C",
          "start": 5356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.4954C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Arg1652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}