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  "communityStandardTitle": [
    "NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)"
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6132390",
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        "id": "COSM6132390"
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        "preferredName": "NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678220",
        "RCV": [
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          "RCV003779087"
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        "variationId": 2678220
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        "maneVersion": "1.3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS018614"
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      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243786.1:c.479C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Ser160Ter",
        "hgvsWellDefined": "NP_001230715.1:p.Ser160_Asp527delinsTyrMetProSerThrHisArgThrThrGluLysTrpAsnSerValAlaAspCysLeuProCysValPheLeuValAspPheGluPheGlyCysAlaThrSerTyrIleLeuProGluLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825193957",
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_000536.4:c.479C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000527.2:p.Ser160Ter",
        "hgvsWellDefined": "NP_000527.2:p.Ser160_Asp527delinsTyrMetProSerThrHisArgThrThrGluLysTrpAsnSerValAlaAspCysLeuProCysValPheLeuValAspPheGluPheGlyCysAlaThrSerTyrIleLeuProGluLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311485.8:c.479C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000536.4:c.479C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308620.4:p.Ser160Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000527.2:p.Ser160Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826339041",
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243785.2:c.479C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230714.1:p.Ser160Ter",
        "hgvsWellDefined": "NP_001230714.1:p.Ser160_Asp527delinsTyrMetProSerThrHisArgThrThrGluLysTrpAsnSerValAlaAspCysLeuProCysValPheLeuValAspPheGluPheGlyCysAlaThrSerTyrIleLeuProGluLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741839883",
      "coordinates": [
        {
          "allele": "A",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243786.2:c.479C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Ser160Ter",
        "hgvsWellDefined": "NP_001230715.1:p.Ser160_Asp527delinsTyrMetProSerThrHisArgThrThrGluLysTrpAsnSerValAlaAspCysLeuProCysValPheLeuValAspPheGluPheGlyCysAlaThrSerTyrIleLeuProGluLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714525"
    }
  ],
  "type": "nucleotide"
}