{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA132426",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52492[alleleid]",
        "alleleId": 52492,
        "preferredName": "NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43322",
        "RCV": [
          "RCV000036227",
          "RCV000263244",
          "RCV000320711",
          "RCV000379059",
          "RCV000515066"
        ],
        "variationId": 43322
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-76922359-G-A",
        "id": "11-76922359-G-A",
        "variant": "11:76922359 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.76922359G>A?assembly=hg19",
        "id": "chr11:g.76922359G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77211314G>A?assembly=hg38",
        "id": "chr11:g.77211314G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200313391",
        "rs": 200313391
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-76922359-G-A?dataset=gnomad_r2_1",
        "id": "11-76922359-G-A",
        "variant": "11:76922359 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-77211314-G-A?dataset=gnomad_r3",
        "id": "11-77211314-G-A",
        "variant": "11:77211314 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-77211314-G-A?dataset=gnomad_r4",
        "id": "11-77211314-G-A",
        "variant": "11:77211314 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 77211314,
          "referenceAllele": "G",
          "start": 77211313
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77211314G>A",
        "CM000673.2:g.77211314G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 76922359,
          "referenceAllele": "G",
          "start": 76922358
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76922359G>A",
        "CM000673.1:g.76922359G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 76600007,
          "referenceAllele": "G",
          "start": 76600006
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76600007G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88050,
          "referenceAllele": "G",
          "start": 88049
        }
      ],
      "hgvs": [
        "NG_009086.1:g.88050G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88069,
          "referenceAllele": "G",
          "start": 88068
        }
      ],
      "hgvs": [
        "NG_009086.2:g.88069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6504,
          "referenceAllele": "G",
          "start": 6503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Val2072Ile",
        "hgvsWellDefined": "ENSP00000386331.3:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.6214G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.6214G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Val2072Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Val2072Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4015,
          "referenceAllele": "G",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.4015G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6414,
          "referenceAllele": "G",
          "start": 6413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.6067G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Val2023Ile",
        "hgvsWellDefined": "ENSP00000386635.2:p.Val2023Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6486,
          "referenceAllele": "G",
          "start": 6485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Val2072Ile",
        "hgvsWellDefined": "ENSP00000386331.3:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:p.Val1214Ile",
        "hgvsWellDefined": "ENSP00000417017.2:p.Val1214Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6366,
          "referenceAllele": "G",
          "start": 6365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.6100G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Val2034Ile",
        "hgvsWellDefined": "ENSP00000392185.2:p.Val2034Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3750,
          "referenceAllele": "G",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.3750G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "endIntronDirection": "+",
          "endIntronOffset": 403,
          "referenceAllele": "G",
          "start": 25,
          "startIntronDirection": "+",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000526863.2:n.25+403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "G",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000605744.1:n.1681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132427",
      "coordinates": [
        {
          "allele": "A",
          "end": 6486,
          "referenceAllele": "G",
          "start": 6485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Val2072Ile",
        "hgvsWellDefined": "NP_000251.3:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825628016",
      "coordinates": [
        {
          "allele": "A",
          "end": 6366,
          "referenceAllele": "G",
          "start": 6365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.6100G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Val2034Ile",
        "hgvsWellDefined": "NP_001120652.1:p.Val2034Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6415,
          "referenceAllele": "G",
          "start": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.6097G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Val2033Ile",
        "hgvsWellDefined": "XP_005274069.1:p.Val2033Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6525,
          "referenceAllele": "G",
          "start": 6524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.6205G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Val2069Ile",
        "hgvsWellDefined": "XP_006718621.1:p.Val2069Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6420,
          "referenceAllele": "G",
          "start": 6419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.6100G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Val2034Ile",
        "hgvsWellDefined": "XP_006718622.1:p.Val2034Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6417,
          "referenceAllele": "G",
          "start": 6416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.6097G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Val2033Ile",
        "hgvsWellDefined": "XP_006718623.1:p.Val2033Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6418,
          "referenceAllele": "G",
          "start": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.6100G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Val2034Ile",
        "hgvsWellDefined": "XP_006718624.1:p.Val2034Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6534,
          "referenceAllele": "G",
          "start": 6533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Val2072Ile",
        "hgvsWellDefined": "XP_011543346.1:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6528,
          "referenceAllele": "G",
          "start": 6527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.6208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Val2070Ile",
        "hgvsWellDefined": "XP_011543347.1:p.Val2070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6216,
          "referenceAllele": "G",
          "start": 6215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.6181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Val2061Ile",
        "hgvsWellDefined": "XP_011543348.1:p.Val2061Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6438,
          "referenceAllele": "G",
          "start": 6437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.6118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Val2040Ile",
        "hgvsWellDefined": "XP_011543349.1:p.Val2040Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6309,
          "referenceAllele": "G",
          "start": 6308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.5989G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Val1997Ile",
        "hgvsWellDefined": "XP_011543350.1:p.Val1997Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6297,
          "referenceAllele": "G",
          "start": 6296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.5977G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Val1993Ile",
        "hgvsWellDefined": "XP_011543351.1:p.Val1993Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6078,
          "referenceAllele": "G",
          "start": 6077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.5950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Val1984Ile",
        "hgvsWellDefined": "XP_011543352.1:p.Val1984Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6534,
          "referenceAllele": "G",
          "start": 6533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Val2072Ile",
        "hgvsWellDefined": "XP_011543353.1:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6534,
          "referenceAllele": "G",
          "start": 6533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.6534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6508,
          "referenceAllele": "G",
          "start": 6507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.6508G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6558,
          "referenceAllele": "G",
          "start": 6557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Val2072Ile",
        "hgvsWellDefined": "XP_011543346.1:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6319,
          "referenceAllele": "G",
          "start": 6318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.6304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Val2102Ile",
        "hgvsWellDefined": "XP_011543348.2:p.Val2102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6167,
          "referenceAllele": "G",
          "start": 6166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.5950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Val1984Ile",
        "hgvsWellDefined": "XP_011543352.1:p.Val1984Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6313,
          "referenceAllele": "G",
          "start": 6312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.6298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Val2100Ile",
        "hgvsWellDefined": "XP_016873267.1:p.Val2100Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6310,
          "referenceAllele": "G",
          "start": 6309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.6295G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Val2099Ile",
        "hgvsWellDefined": "XP_016873268.1:p.Val2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6319,
          "referenceAllele": "G",
          "start": 6318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.6304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Val2102Ile",
        "hgvsWellDefined": "XP_016873269.1:p.Val2102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6223,
          "referenceAllele": "G",
          "start": 6222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.6208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Val2070Ile",
        "hgvsWellDefined": "XP_016873270.1:p.Val2070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6205,
          "referenceAllele": "G",
          "start": 6204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.6190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Val2064Ile",
        "hgvsWellDefined": "XP_016873271.1:p.Val2064Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6202,
          "referenceAllele": "G",
          "start": 6201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.6187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Val2063Ile",
        "hgvsWellDefined": "XP_016873272.1:p.Val2063Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6202,
          "referenceAllele": "G",
          "start": 6201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.6187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Val2063Ile",
        "hgvsWellDefined": "XP_016873273.1:p.Val2063Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6082,
          "referenceAllele": "G",
          "start": 6081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.6067G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Val2023Ile",
        "hgvsWellDefined": "XP_016873274.1:p.Val2023Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6319,
          "referenceAllele": "G",
          "start": 6318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.6304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Val2102Ile",
        "hgvsWellDefined": "XP_016873275.1:p.Val2102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6205,
          "referenceAllele": "G",
          "start": 6204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.6190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Val2064Ile",
        "hgvsWellDefined": "XP_016873277.1:p.Val2064Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6293,
          "referenceAllele": "G",
          "start": 6292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.6293G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6279,
          "referenceAllele": "G",
          "start": 6278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.6279G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA132427",
      "coordinates": [
        {
          "allele": "A",
          "end": 6504,
          "referenceAllele": "G",
          "start": 6503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.6214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Val2072Ile",
        "hgvsWellDefined": "NP_000251.3:p.Val2072Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.6214G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.6214G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Val2072Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Val2072Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825628016",
      "coordinates": [
        {
          "allele": "A",
          "end": 6390,
          "referenceAllele": "G",
          "start": 6389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.6100G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Val2034Ile",
        "hgvsWellDefined": "NP_001120652.1:p.Val2034Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828321652",
      "coordinates": [
        {
          "allele": "A",
          "end": 6470,
          "referenceAllele": "G",
          "start": 6469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.6067G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Val2023Ile",
        "hgvsWellDefined": "NP_001356294.1:p.Val2023Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}