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  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1314481",
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        "id": "COSM1314481"
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4811997",
        "active": true,
        "id": "COSM4811997"
      }
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      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074832",
        "RCV": [
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          "RCV002395875"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN003349",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499238144",
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      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001108225.1:p.Gln476_Ala658delinsValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581637",
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      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265067.1:p.Gln294_Ala476delinsValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
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          "endIntronDirection": "+",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
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    {
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      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001108225.1:p.Gln476_Ala658delinsValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581637",
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      "gene": "http://reg.genome.network/gene/GN003349",
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      "geneSymbol": "ENG",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265067.1:p.Gln294_Ala476delinsValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}