{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278624",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52314[alleleid]",
        "alleleId": 52314,
        "preferredName": "NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43144",
        "RCV": [
          "RCV000036048",
          "RCV002513368"
        ],
        "variationId": 43144
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.76873192C>T?assembly=hg19",
        "id": "chr11:g.76873192C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77162146C>T?assembly=hg38",
        "id": "chr11:g.77162146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033286",
        "rs": 111033286
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-77162146-C-T?dataset=gnomad_r4",
        "id": "11-77162146-C-T",
        "variant": "11:77162146 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 77162146,
          "referenceAllele": "C",
          "start": 77162145
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77162146C>T",
        "CM000673.2:g.77162146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 76873192,
          "referenceAllele": "C",
          "start": 76873191
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76873192C>T",
        "CM000673.1:g.76873192C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 76550840,
          "referenceAllele": "C",
          "start": 76550839
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76550840C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38883,
          "referenceAllele": "C",
          "start": 38882
        }
      ],
      "hgvs": [
        "NG_009086.1:g.38883C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38901,
          "referenceAllele": "C",
          "start": 38900
        }
      ],
      "hgvs": [
        "NG_009086.2:g.38901C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Ala457Val",
        "hgvsWellDefined": "ENSP00000386331.3:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.1370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.1370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Ala457Val"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Ala457Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Ala446Val",
        "hgvsWellDefined": "ENSP00000386635.2:p.Ala446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Ala457Val",
        "hgvsWellDefined": "ENSP00000386331.3:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409893.5:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386689.1:p.Ala457Val",
        "hgvsWellDefined": "ENSP00000386689.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Ala457Val",
        "hgvsWellDefined": "ENSP00000392185.2:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000620575.4:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477640.1:p.Ala457Val",
        "hgvsWellDefined": "ENSP00000477640.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099280",
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Ala457Val",
        "hgvsWellDefined": "NP_000251.3:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127179.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120651.2:p.Ala457Val",
        "hgvsWellDefined": "NP_001120651.2:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980785",
      "coordinates": [
        {
          "allele": "T",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Ala457Val",
        "hgvsWellDefined": "NP_001120652.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Ala457Val",
        "hgvsWellDefined": "XP_005274069.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Ala457Val",
        "hgvsWellDefined": "XP_006718621.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Ala457Val",
        "hgvsWellDefined": "XP_006718622.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Ala457Val",
        "hgvsWellDefined": "XP_006718623.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Ala457Val",
        "hgvsWellDefined": "XP_006718624.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543346.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543347.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Ala446Val",
        "hgvsWellDefined": "XP_011543348.1:p.Ala446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543349.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543350.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Ala380Val",
        "hgvsWellDefined": "XP_011543351.1:p.Ala380Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.1112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Ala371Val",
        "hgvsWellDefined": "XP_011543352.1:p.Ala371Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543353.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543354.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.1690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.1690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.1692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949943.1:n.1692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "referenceAllele": "C",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Ala457Val",
        "hgvsWellDefined": "XP_011543346.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Ala487Val",
        "hgvsWellDefined": "XP_011543348.2:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.1112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Ala371Val",
        "hgvsWellDefined": "XP_011543352.1:p.Ala371Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873267.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873268.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873269.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873270.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873271.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873272.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873273.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.1229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Ala410Val",
        "hgvsWellDefined": "XP_016873274.1:p.Ala410Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873275.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017787.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873276.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873276.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.1460C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Ala487Val",
        "hgvsWellDefined": "XP_016873277.1:p.Ala487Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747889.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099280",
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Ala457Val",
        "hgvsWellDefined": "NP_000251.3:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.1370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.1370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Ala457Val"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Ala457Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980785",
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.1370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Ala457Val",
        "hgvsWellDefined": "NP_001120652.1:p.Ala457Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828319796",
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Ala446Val",
        "hgvsWellDefined": "NP_001356294.1:p.Ala446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}