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  "communityStandardTitle": [
    "NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1706929",
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        "id": "COSM1706929"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162620",
        "RCV": [
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          "RCV000206865"
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      "proteinEffect": {
        "hgvs": "XP_016876164.1:p.Arg73Ter",
        "hgvsWellDefined": "XP_016876164.1:p.Arg73_Asn383delinsAlaGluCysPheIleLysGluGlyGluProArgLysAlaIleSerAspLeuLysAlaAlaSerLysLeuLysAsnAspAsnThrGluAlaPheTyrLysIleSerThrLeuTyrTyrGlnLeuGlyAspHisGluLeuSerLeuSerGluValArgGluCysLeuLysLeuAspGlnAspHisLysArgCysPheAlaHisTyrLysGlnValLysLysLeuAsnLysLeuIleGluSerAlaGluGluLeuIleArgAspGlyArgTyrThrAspAlaThrSerLysTyrGluSerValMetLysThrGluProSerIleAlaGluTyrThrValArgSerLysGluArgIleCysHisCysPheSerLysAspGluLysProValGluAlaIleArgValCysSerGluValLeuGlnMetGluProAspAsnValAsnAlaLeuLysAspArgAlaGluAlaTyrLeuIleGluGluMetTyrAspGluAlaIleGlnAspTyrGluThrAlaGlnGluHisAsnGluAsnAspGlnGlnIleArgGluGlyLeuGluLysAlaGlnArgLeuLeuLysGlnSerGlnLysArgAspTyrTyrLysIleLeuGlyValLysArgAsnAlaLysLysGlnGluIleIleLysAlaTyrArgLysLeuAlaLeuGlnTrpHisProAspAsnPheGlnAsnGluGluGluLysLysLysAlaGluLysLysPheIleAspIleAlaAlaAlaLysGluValLeuSerAspProGluMetArgLysLysPheAspAspGlyGluAspProLeuAspAlaGluSerGlnGlnGlyGlyGlyGlyAsnProPheHisArgSerTrpAsnSerTrpGlnGlyPheAsnProPheSerSerGlyGlyProPheArgPheLysPheHisPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572094"
    },
    {
      "@id": "http://reg.genome.network/allele/PA175115",
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009439",
      "geneNCBI_id": 5611,
      "geneSymbol": "DNAJC3",
      "hgvs": [
        "NM_006260.5:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006251.1:p.Arg194Ter",
        "hgvsWellDefined": "NP_006251.1:p.Arg194_Asn504delinsAlaGluCysPheIleLysGluGlyGluProArgLysAlaIleSerAspLeuLysAlaAlaSerLysLeuLysAsnAspAsnThrGluAlaPheTyrLysIleSerThrLeuTyrTyrGlnLeuGlyAspHisGluLeuSerLeuSerGluValArgGluCysLeuLysLeuAspGlnAspHisLysArgCysPheAlaHisTyrLysGlnValLysLysLeuAsnLysLeuIleGluSerAlaGluGluLeuIleArgAspGlyArgTyrThrAspAlaThrSerLysTyrGluSerValMetLysThrGluProSerIleAlaGluTyrThrValArgSerLysGluArgIleCysHisCysPheSerLysAspGluLysProValGluAlaIleArgValCysSerGluValLeuGlnMetGluProAspAsnValAsnAlaLeuLysAspArgAlaGluAlaTyrLeuIleGluGluMetTyrAspGluAlaIleGlnAspTyrGluThrAlaGlnGluHisAsnGluAsnAspGlnGlnIleArgGluGlyLeuGluLysAlaGlnArgLeuLeuLysGlnSerGlnLysArgAspTyrTyrLysIleLeuGlyValLysArgAsnAlaLysLysGlnGluIleIleLysAlaTyrArgLysLeuAlaLeuGlnTrpHisProAspAsnPheGlnAsnGluGluGluLysLysLysAlaGluLysLysPheIleAspIleAlaAlaAlaLysGluValLeuSerAspProGluMetArgLysLysPheAspAspGlyGluAspProLeuAspAlaGluSerGlnGlnGlyGlyGlyGlyAsnProPheHisArgSerTrpAsnSerTrpGlnGlyPheAsnProPheSerSerGlyGlyProPheArgPheLysPheHisPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000602402.6:c.580C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006260.5:c.580C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000473631.1:p.Arg194Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006251.1:p.Arg194Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}