{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344177667",
  "communityStandardTitle": [
    "NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=486661[alleleid]",
        "alleleId": 486661,
        "preferredName": "NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/495106",
        "RCV": [
          "RCV000585663"
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        "variationId": 495106
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201285820C>T?assembly=hg19",
        "id": "chr1:g.201285820C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201316692C>T?assembly=hg38",
        "id": "chr1:g.201316692C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553275192",
        "rs": 1553275192
      }
    ]
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      "chromosome": "1",
      "coordinates": [
        {
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          "end": 201316692,
          "referenceAllele": "C",
          "start": 201316691
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 201285820,
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          "start": 201285819
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
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      "hgvs": [
        "NG_023337.1:g.38241C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003806"
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      "referenceSequence": "http://reg.genome.network/refseq/RS749983",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_001005337.3:c.841C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251376"
    },
    {
      "coordinates": [
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          "start": 840
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262903"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS266327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
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      "hgvs": [
        "ENST00000475988.1:n.183C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS317154"
    },
    {
      "coordinates": [
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          "start": 1028
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000482213.1:p.Gln281_Phe725delinsValTyrGlnLeuGlyGlyIleCysLysLeuValAspLeuLeuArgSerProAsnGlnAsnValGlnGlnAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658703477",
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        {
          "allele": "T",
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      ],
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      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
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        "hgvsWellDefined": "NP_000290.2:p.Gln282_Phe747delinsValTyrGlnLeuGlyGlyIleCysLysLeuValAspLeuLeuArgSerProAsnGlnAsnValGlnGlnAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgLysArgLeuGlyMetArgGluLeuLeuAlaLeuValProGlnArgAlaThrSerSerArgValAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006360"
    },
    {
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        {
          "allele": "T",
          "end": 1092,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954244",
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
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      "geneSymbol": "PKP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001005337.1:p.Gln281Ter",
        "hgvsWellDefined": "NP_001005337.1:p.Gln282_Phe726delinsValTyrGlnLeuGlyGlyIleCysLysLeuValAspLeuLeuArgSerProAsnGlnAsnValGlnGlnAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367324.8:c.841C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001005337.3:c.841C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356293.4:p.Gln281Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001005337.1:p.Gln281Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658703477",
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_000299.4:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000290.2:p.Gln281Ter",
        "hgvsWellDefined": "NP_000290.2:p.Gln282_Phe747delinsValTyrGlnLeuGlyGlyIleCysLysLeuValAspLeuLeuArgSerProAsnGlnAsnValGlnGlnAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgLysArgLeuGlyMetArgGluLeuLeuAlaLeuValProGlnArgAlaThrSerSerArgValAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710822"
    }
  ],
  "type": "nucleotide"
}