{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374475619",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3114739[alleleid]",
        "alleleId": 3114739,
        "preferredName": "NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2953184",
        "RCV": [
          "RCV003810302"
        ],
        "variationId": 2953184
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113547812C>G?assembly=hg19",
        "id": "chr9:g.113547812C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110785532C>G?assembly=hg38",
        "id": "chr9:g.110785532C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2491151455",
        "rs": 2491151455
      }
    ]
  },
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      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 110785532,
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          "start": 110785531
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      ],
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        "CM000671.2:g.110785532C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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          "end": 113547812,
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          "start": 113547811
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      ],
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        "CM000671.1:g.113547812C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
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          "end": 112587633,
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          "start": 112587632
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      ],
      "hgvs": [
        "NC_000009.10:g.112587633C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
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          "end": 121762,
          "referenceAllele": "C",
          "start": 121761
        }
      ],
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        "NG_016016.1:g.121762C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
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        {
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      ],
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        "NG_016016.2:g.121742C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000363571.4:p.Ser531_Val869delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000374448.9:c.1592C>G"
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          "RefSeq": {
            "hgvs": "NM_005592.4:c.1592C>G"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000363571.4:p.Ser531Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Ser531Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374438.1:n.623C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1380,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:p.Ser445Ter",
        "hgvsWellDefined": "ENSP00000363563.4:p.Ser445_Val783delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
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          "end": 1726,
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          "start": 1725
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000363571.4:p.Ser531_Val869delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
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      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:p.Ser523Ter",
        "hgvsWellDefined": "ENSP00000393608.3:p.Ser523_Val861delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001159752.1:p.Ser445_Val783delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029603",
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.1304C>G"
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      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Ser435Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Ser435_Val773delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741923113",
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "referenceAllele": "C",
          "start": 1725
        }
      ],
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      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.1592C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Ser531Ter",
        "hgvsWellDefined": "NP_005583.1:p.Ser531_Val869delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.1622C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Ser541Ter",
        "hgvsWellDefined": "XP_005252051.1:p.Ser541_Val879delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.1598C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Ser533Ter",
        "hgvsWellDefined": "XP_005252052.1:p.Ser533_Val871delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.1568C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Ser523Ter",
        "hgvsWellDefined": "XP_005252053.1:p.Ser523_Val861delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.1652C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:p.Ser551Ter",
        "hgvsWellDefined": "XP_011517009.1:p.Ser551_Val889delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.1:c.356C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:p.Ser119Ter",
        "hgvsWellDefined": "XP_011517010.1:p.Ser119_Val457delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.1622C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Ser541Ter",
        "hgvsWellDefined": "XP_005252051.1:p.Ser541_Val879delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.1598C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Ser533Ter",
        "hgvsWellDefined": "XP_005252052.1:p.Ser533_Val871delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2282,
          "referenceAllele": "C",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.1568C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Ser523Ter",
        "hgvsWellDefined": "XP_005252053.1:p.Ser523_Val861delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.2:c.356C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:p.Ser119Ter",
        "hgvsWellDefined": "XP_011517010.1:p.Ser119_Val457delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.1358C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:p.Ser453Ter",
        "hgvsWellDefined": "XP_016870223.1:p.Ser453_Val791delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "endIntronDirection": "+",
          "endIntronOffset": 71,
          "referenceAllele": "G",
          "start": 120,
          "startIntronDirection": "+",
          "startIntronOffset": 70
        }
      ],
      "hgvs": [
        "XR_001746892.1:n.120+71G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Ser445Ter",
        "hgvsWellDefined": "NP_001159752.1:p.Ser445_Val783delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029603",
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Ser435Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Ser435_Val773delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328591",
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.332C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:p.Ser111Ter",
        "hgvsWellDefined": "NP_001356327.1:p.Ser111_Val449delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741923113",
      "coordinates": [
        {
          "allele": "G",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.1592C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Ser531Ter",
        "hgvsWellDefined": "NP_005583.1:p.Ser531_Val869delinsAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.1592C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.1592C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Ser531Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Ser531Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}