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          "allele": "A",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.2100G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Trp700Ter",
        "hgvsWellDefined": "NP_001159752.1:p.Trp700_Val783delinsAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029760",
      "coordinates": [
        {
          "allele": "A",
          "end": 2184,
          "referenceAllele": "G",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Trp690Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Trp690_Val773delinsAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328746",
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:p.Trp366Ter",
        "hgvsWellDefined": "NP_001356327.1:p.Trp366_Val449delinsAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831051",
      "coordinates": [
        {
          "allele": "A",
          "end": 2472,
          "referenceAllele": "G",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.2358G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Trp786Ter",
        "hgvsWellDefined": "NP_005583.1:p.Trp786_Val869delinsAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.2358G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.2358G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Trp786Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Trp786Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}