{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119764",
  "communityStandardTitle": [
    "NM_004999.4(MYO6):c.737A>G (p.His246Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23620[alleleid]",
        "alleleId": 23620,
        "preferredName": "NM_004999.4(MYO6):c.737A>G (p.His246Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8581",
        "RCV": [
          "RCV000009112",
          "RCV000219073",
          "RCV001582473"
        ],
        "variationId": 8581
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.76551016A>G?assembly=hg19",
        "id": "chr6:g.76551016A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.75841299A>G?assembly=hg38",
        "id": "chr6:g.75841299A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912560",
        "rs": 121912560
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-76551016-A-G?dataset=gnomad_r2_1",
        "id": "6-76551016-A-G",
        "variant": "6:76551016 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-75841299-A-G?dataset=gnomad_r4",
        "id": "6-75841299-A-G",
        "variant": "6:75841299 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 75841299,
          "referenceAllele": "A",
          "start": 75841298
        }
      ],
      "hgvs": [
        "NC_000006.12:g.75841299A>G",
        "CM000668.2:g.75841299A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 76551016,
          "referenceAllele": "A",
          "start": 76551015
        }
      ],
      "hgvs": [
        "NC_000006.11:g.76551016A>G",
        "CM000668.1:g.76551016A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 76607736,
          "referenceAllele": "A",
          "start": 76607735
        }
      ],
      "hgvs": [
        "NC_000006.10:g.76607736A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97108,
          "referenceAllele": "A",
          "start": 97107
        }
      ],
      "hgvs": [
        "NG_009934.1:g.97108A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97107,
          "referenceAllele": "A",
          "start": 97106
        }
      ],
      "hgvs": [
        "NG_009934.2:g.97107A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673535"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "A",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369975.6:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358992.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000358992.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369977.8:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358994.3:p.His246Arg",
        "hgvsWellDefined": "ENSP00000358994.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750519",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369977.8:c.737A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004999.4:c.737A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358994.3:p.His246Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004990.3:p.His246Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369985.9:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359002.3:p.His246Arg",
        "hgvsWellDefined": "ENSP00000359002.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000462633.3:c.*279A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499616.2:n.*279A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000627432.3:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487348.2:p.His246Arg",
        "hgvsWellDefined": "ENSP00000487348.2:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000653423.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499696.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499696.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000653917.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499623.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499623.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000660420.1:c.*693A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499263.1:n.*693A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "A",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000662184.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499732.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499732.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "A",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000662603.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499324.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499324.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000663400.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499736.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499736.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1063,
          "referenceAllele": "A",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000664209.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499768.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499768.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000664640.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499278.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000499278.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000671923.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500835.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000500835.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000672093.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500710.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000500710.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369975.5:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358992.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000358992.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369977.7:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358994.3:p.His246Arg",
        "hgvsWellDefined": "ENSP00000358994.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "A",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369981.7:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358998.4:p.His246Arg",
        "hgvsWellDefined": "ENSP00000358998.4:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "referenceAllele": "A",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000369985.8:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359002.3:p.His246Arg",
        "hgvsWellDefined": "ENSP00000359002.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000615563.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478013.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000478013.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "ENST00000627432.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487348.1:p.His246Arg",
        "hgvsWellDefined": "ENSP00000487348.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826854376",
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001300899.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287828.1:p.His246Arg",
        "hgvsWellDefined": "NP_001287828.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119765",
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "A",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_004999.3:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004990.3:p.His246Arg",
        "hgvsWellDefined": "NP_004990.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248719.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248776.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248776.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248720.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248777.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248777.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248721.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248778.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248778.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248722.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248779.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248779.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248724.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248781.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248781.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248726.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248783.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248783.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248719.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248776.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248776.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248720.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248777.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248777.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248721.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248778.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248778.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248722.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248779.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248779.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248724.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248781.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248781.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_005248726.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248783.1:p.His246Arg",
        "hgvsWellDefined": "XP_005248783.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_017010899.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866388.1:p.His246Arg",
        "hgvsWellDefined": "XP_016866388.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "A",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_024446447.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302215.1:p.His246Arg",
        "hgvsWellDefined": "XP_024302215.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "XM_024446448.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302216.1:p.His246Arg",
        "hgvsWellDefined": "XP_024302216.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119765",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_004999.4:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004990.3:p.His246Arg",
        "hgvsWellDefined": "NP_004990.3:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369977.8:c.737A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004999.4:c.737A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358994.3:p.His246Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004990.3:p.His246Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826854376",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001300899.2:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287828.1:p.His246Arg",
        "hgvsWellDefined": "NP_001287828.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828284753",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368136.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355065.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355065.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828285113",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368137.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355066.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355066.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828285471",
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "A",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368138.1:c.722A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355067.1:p.His241Arg",
        "hgvsWellDefined": "NP_001355067.1:p.His241Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828285832",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368139.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355068.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355068.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828285900",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368140.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355069.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355069.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290629",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368865.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355794.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355794.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290957",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368866.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355795.1:p.His246Arg",
        "hgvsWellDefined": "NP_001355795.1:p.His246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NR_160538.1:n.969A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NR_160539.1:n.1069A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705099"
    }
  ],
  "type": "nucleotide"
}