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  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5416048",
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        "RCV": [
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          "RCV003448338"
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        "variationId": 569156
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      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Arg421Ter",
        "hgvsWellDefined": "XP_011523266.1:p.Arg421_Ser749delinsValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3034,
          "referenceAllele": "C",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.2350C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Arg784Ter",
        "hgvsWellDefined": "XP_024306589.1:p.Arg784_Ser1112delinsValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_001752550.2:n.2471C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.2471C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891855046",
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Arg814Ter",
        "hgvsWellDefined": "NP_060420.2:p.Arg814_Ser1142delinsValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2440C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2440C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Arg814Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Arg814Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327260",
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Arg814Ter",
        "hgvsWellDefined": "NP_001230271.1:p.Arg814_Ala1030delinsValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}