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  "communityStandardTitle": [
    "NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2138794",
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        "id": "COSM2138794"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390113",
        "RCV": [
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          "RCV002522557"
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      "proteinEffect": {
        "hgvs": "NP_001316868.1:p.Arg148Ter",
        "hgvsWellDefined": "NP_001316868.1:p.Arg148_Ser412delinsAlaGluPheArgValLeuArgValProAsnProSerSerLysArgAsnGluGlnArgIleGluLeuPheGlnIleLeuArgProAspGluHisIleAlaLysGlnArgTyrIleGlyGlyLysAsnLeuProThrArgGlyThrAlaGluTrpLeuSerPheAspValThrAspThrValArgGluTrpLeuLeuArgArgGluSerAsnLeuGlyLeuGluIleSerIleHisCysProCysHisThrPheGlnProAsnGlyAspIleLeuGluAsnIleHisGluValMetGluIleLysPheLysGlyValAspAsnGluAspAspHisGlyArgGlyAspLeuGlyArgLeuLysLysGlnLysAspHisHisAsnProHisLeuIleLeuMetMetIleProProHisArgLeuAspAsnProGlyGlnGlyGlyGlnArgLysLysArgAlaLeuAspThrAsnTyrCysPheArgAsnLeuGluGluAsnCysCysValArgProLeuTyrIleAspPheArgGlnAspLeuGlyTrpLysTrpValHisGluProLysGlyTyrTyrAlaAsnPheCysSerGlyProCysProTyrLeuArgSerAlaAspThrThrHisSerThrValLeuGlyLeuTyrAsnThrLeuAsnProGluAlaSerAlaSerProCysCysValProGlnAspLeuGluProLeuThrIleLeuTyrTyrValGlyArgThrProLysValGluGlnLeuSerAsnMetValValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645429477",
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.5:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:p.Arg148Ter",
        "hgvsWellDefined": "NP_003230.1:p.Arg148_Ser412delinsAlaGluPheArgValLeuArgValProAsnProSerSerLysArgAsnGluGlnArgIleGluLeuPheGlnIleLeuArgProAspGluHisIleAlaLysGlnArgTyrIleGlyGlyLysAsnLeuProThrArgGlyThrAlaGluTrpLeuSerPheAspValThrAspThrValArgGluTrpLeuLeuArgArgGluSerAsnLeuGlyLeuGluIleSerIleHisCysProCysHisThrPheGlnProAsnGlyAspIleLeuGluAsnIleHisGluValMetGluIleLysPheLysGlyValAspAsnGluAspAspHisGlyArgGlyAspLeuGlyArgLeuLysLysGlnLysAspHisHisAsnProHisLeuIleLeuMetMetIleProProHisArgLeuAspAsnProGlyGlnGlyGlyGlnArgLysLysArgAlaLeuAspThrAsnTyrCysPheArgAsnLeuGluGluAsnCysCysValArgProLeuTyrIleAspPheArgGlnAspLeuGlyTrpLysTrpValHisGluProLysGlyTyrTyrAlaAsnPheCysSerGlyProCysProTyrLeuArgSerAlaAspThrThrHisSerThrValLeuGlyLeuTyrAsnThrLeuAsnProGluAlaSerAlaSerProCysCysValProGlnAspLeuGluProLeuThrIleLeuTyrTyrValGlyArgThrProLysValGluGlnLeuSerAsnMetValValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000238682.8:c.442C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003239.5:c.442C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000238682.3:p.Arg148Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003230.1:p.Arg148Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}