{
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  "@id": "http://reg.genome.network/allele/CA16606262",
  "communityStandardTitle": [
    "NM_001005242.3(PKP2):c.1147C>T (p.Gln383Ter)"
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        "preferredName": "NM_001005242.3(PKP2):c.1147C>T (p.Gln383Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379575",
        "RCV": [
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        "maneStatus": "MANE Select",
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      "proteinEffect": {
        "hgvs": "ENSP00000478295.1:p.Gln383Ter",
        "hgvsWellDefined": "ENSP00000478295.1:p.Gln383_His824delinsLysSerGluAlaArgLysArgValAsnGlnLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnArgGlyHisProGluAsnTyrGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825259917",
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.2:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Gln383Ter",
        "hgvsWellDefined": "NP_001005242.2:p.Gln383_Asp837delinsLysSerGluAlaArgLysArgValAsnGlnLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490934",
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.3:c.1147C>T",
        "LRG_398t1:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Gln383Ter",
        "hgvsWellDefined": "NP_004563.2:p.Gln383_Asp881delinsLysSerGluAlaArgLysArgValAsnGlnLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825259917",
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.3:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.Gln383Ter",
        "hgvsWellDefined": "NP_001005242.2:p.Gln383_Asp837delinsLysSerGluAlaArgLysArgValAsnGlnLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.1147C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.1147C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.Gln383Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.Gln383Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490934",
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.4:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.Gln383Ter",
        "hgvsWellDefined": "NP_004563.2:p.Gln383_Asp881delinsLysSerGluAlaArgLysArgValAsnGlnLeuArgGlyIleLeuLysLeuLeuGlnLeuLeuLysValGlnAsnGluAspValGlnArgAlaValCysGlyAlaLeuArgAsnLeuValPheGluAspAsnAspAsnLysLeuGluValAlaGluLeuAsnGlyValProArgLeuLeuGlnValLeuLysGlnThrArgAspLeuGluThrLysLysGlnIleThrAspHisThrValAsnLeuArgSerArgAsnGlyTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyGlnGlyGlyArgIleThrArgSerGlyValArgAspGlnProAspGlnHisGlyLeuLeuTrpAsnLeuSerSerAsnAspLysLeuLysAsnLeuMetIleThrGluAlaLeuLeuThrLeuThrGluAsnIleIleIleProPheSerGlyTrpProGluGlyAspTyrProLysAlaAsnGlyLeuLeuAspPheAspIlePheTyrAsnValThrGlyCysLeuArgAsnMetSerSerAlaGlyAlaAspGlyArgLysAlaMetArgArgCysAspGlyLeuIleAspSerLeuValHisTyrValArgGlyThrIleAlaAspTyrGlnProAspAspLysAlaThrGluAsnCysValCysIleLeuHisAsnLeuSerTyrGlnLeuGluAlaGluLeuProGluLysTyrSerGlnAsnIleTyrIleGlnAsnArgAsnIleGlnThrAspAsnAsnLysSerIleGlyCysPheGlySerArgSerArgLysValLysGluGlnTyrGlnAspValProMetProGluGluLysSerAsnProLysGlyValGluTrpLeuTrpHisSerIleValIleArgMetTyrLeuSerLeuIleAlaLysSerValArgAsnTyrThrGlnGluAlaSerLeuGlyAlaLeuGlnAsnLeuThrAlaGlySerGlyProMetProThrSerValAlaGlnThrValValGlnLysGluSerGlyLeuGlnHisThrArgLysMetLeuHisValGlyAspProSerValLysLysThrAlaIleSerLeuLeuArgAsnLeuSerArgAsnLeuSerLeuGlnAsnGluIleAlaLysGluThrLeuProAspLeuValSerIleIleProAspThrValProSerThrAspLeuLeuIleGluThrThrAlaSerAlaCysTyrThrLeuAsnAsnIleIleGlnAsnSerTyrGlnAsnAlaArgAspLeuLeuAsnThrGlyGlyIleGlnLysIleMetAlaIleSerAlaGlyAspAlaTyrAlaSerAsnLysAlaSerLysAlaAlaSerValLeuLeuTyrSerLeuTrpAlaHisThrGluLeuHisHisAlaTyrLysLysAlaGlnPheLysLysThrAspPheValAsnSerArgThrAlaLysAlaTyrHisSerLeuLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727517"
    }
  ],
  "type": "nucleotide"
}