{
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  "@id": "http://reg.genome.network/allele/CA118919",
  "communityStandardTitle": [
    "NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22642[alleleid]",
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        "preferredName": "NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7603",
        "RCV": [
          "RCV000008041"
        ],
        "variationId": 7603
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201286763C>T?assembly=hg19",
        "id": "chr1:g.201286763C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918354",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201317635-C-T?dataset=gnomad_r4",
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      "referenceGenome": "GRCh37",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS266327"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS317154"
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      "referenceSequence": "http://reg.genome.network/refseq/RS405532"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS006360"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007684"
    },
    {
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      "proteinEffect": {
        "hgvs": "NP_001005337.1:p.Gln304Ter",
        "hgvsWellDefined": "NP_001005337.1:p.Gln305_Phe726delinsAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367324.8:c.910C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001005337.3:c.910C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356293.4:p.Gln304Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001005337.1:p.Gln304Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA118920",
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NM_000299.4:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000290.2:p.Gln304Ter",
        "hgvsWellDefined": "NP_000290.2:p.Gln305_Phe747delinsAlaAlaAlaGlyAlaLeuArgAsnLeuValPheArgSerThrThrAsnLysLeuGluThrArgArgGlnAsnGlyIleArgGluAlaValSerLeuLeuArgArgThrGlyAsnAlaGluIleGlnLysGlnLeuThrGlyLeuLeuTrpAsnLeuSerSerThrAspGluLeuLysGluGluLeuIleAlaAspAlaLeuProValLeuAlaAspArgValIleIleProPheSerGlyTrpCysAspGlyAsnSerAsnMetSerArgGluValValAspProGluValPhePheAsnAlaThrGlyCysLeuArgLysArgLeuGlyMetArgGluLeuLeuAlaLeuValProGlnArgAlaThrSerSerArgValAsnLeuSerSerAlaAspAlaGlyArgGlnThrMetArgAsnTyrSerGlyLeuIleAspSerLeuMetAlaTyrValGlnAsnCysValAlaAlaSerArgCysAspAspLysSerValGluAsnCysMetCysValLeuHisAsnLeuSerTyrArgLeuAspAlaGluValProThrArgTyrArgGlnLeuGluTyrAsnAlaArgAsnAlaTyrThrGluLysSerSerThrGlyCysPheSerAsnLysSerAspLysMetMetAsnAsnAsnTyrAspCysProLeuProGluGluGluThrAsnProLysGlySerGlyTrpLeuTyrHisSerAspAlaIleArgThrTyrLeuAsnLeuMetGlyLysSerLysLysAspAlaThrLeuGluAlaCysAlaGlyAlaLeuGlnAsnLeuThrAlaSerLysGlyLeuMetSerSerGlyMetSerGlnLeuIleGlyLeuLysGluLysGlyLeuProGlnIleAlaArgLeuLeuGlnSerGlyAsnSerAspValValArgSerGlyAlaSerLeuLeuSerAsnMetSerArgHisProLeuLeuHisArgValMetGlyAsnGlnValPheProGluValThrArgLeuLeuThrSerHisThrGlyAsnThrSerAsnSerGluAspIleLeuSerSerAlaCysTyrThrValArgAsnLeuMetAlaSerGlnProGlnLeuAlaLysGlnTyrPheSerSerSerMetLeuAsnAsnIleIleAsnLeuCysArgSerSerAlaSerProLysAlaAlaGluAlaAlaArgLeuLeuLeuSerAspMetTrpSerSerLysGluLeuGlnGlyValLeuArgGlnGlnGlyPheAspArgAsnMetLeuGlyThrLeuAlaGlyAlaAsnSerLeuArgAsnPheThrSerArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710822"
    }
  ],
  "type": "nucleotide"
}