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  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=173859",
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        "id": "COSM173859"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3418767",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222832",
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          "RCV001824300",
          "RCV003221862",
          "RCV002321824"
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      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Arg131Ter",
        "hgvsWellDefined": "NP_003229.1:p.Arg131_Ser414delinsPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Arg131Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:p.Arg131Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA351961",
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.4:c.475C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Arg159Ter",
        "hgvsWellDefined": "NP_001129071.1:p.Arg159_Ser442delinsPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.2:n.1757C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.2:n.1841C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731095"
    }
  ],
  "type": "nucleotide"
}