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      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368865.1:c.3523C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355794.1:p.Arg1175Ter",
        "hgvsWellDefined": "NP_001355794.1:p.Arg1175_Lys1294delinsGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828291195",
      "coordinates": [
        {
          "allele": "T",
          "end": 3728,
          "referenceAllele": "C",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NM_001368866.1:c.3496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355795.1:p.Arg1166Ter",
        "hgvsWellDefined": "NP_001355795.1:p.Arg1166_Lys1285delinsGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "C",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NR_160538.1:n.3725C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705098"
    }
  ],
  "type": "nucleotide"
}