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        "XM_005251995.3:c.2176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Arg726Ter",
        "hgvsWellDefined": "XP_005252052.1:p.Arg726_Val871delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2860,
          "referenceAllele": "C",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.2146C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Arg716Ter",
        "hgvsWellDefined": "XP_005252053.1:p.Arg716_Val861delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.2:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:p.Arg312Ter",
        "hgvsWellDefined": "XP_011517010.1:p.Arg312_Val457delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2652,
          "referenceAllele": "C",
          "start": 2651
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      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.1936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:p.Arg646Ter",
        "hgvsWellDefined": "XP_016870223.1:p.Arg646_Val791delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029256",
      "coordinates": [
        {
          "allele": "T",
          "end": 2026,
          "referenceAllele": "C",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.1912C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Arg638Ter",
        "hgvsWellDefined": "NP_001159752.1:p.Arg638_Val783delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029721",
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.1882C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Arg628Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Arg628_Val773delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328710",
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:p.Arg304Ter",
        "hgvsWellDefined": "NP_001356327.1:p.Arg304_Val449delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573244658",
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.2170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Arg724Ter",
        "hgvsWellDefined": "NP_005583.1:p.Arg724_Val869delinsAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.2170C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.2170C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Arg724Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Arg724Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}