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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "NM_000553.6:c.3493C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000544.2:p.Gln1165Ter",
        "hgvsWellDefined": "NP_000544.2:p.Gln1165_Ser1432delinsLysHisAlaAsnLysMetAspValProProAlaIleLeuAlaThrAsnLysIleLeuValAspMetAlaLysMetArgProThrThrValGluAsnValLysArgIleAspGlyValSerGluGlyLysAlaAlaMetLeuAlaProLeuLeuGluValIleLysHisPheCysGlnThrAsnSerValGlnThrAspLeuPheSerSerThrLysProGlnGluGluGlnLysThrSerLeuValAlaLysAsnLysIleCysThrLeuSerGlnSerMetAlaIleThrTyrSerLeuPheGlnGluLysLysMetProLeuLysSerIleAlaGluSerArgIleLeuProLeuMetThrIleGlyMetHisLeuSerGlnAlaValLysAlaGlyCysProLeuAspLeuGluArgAlaGlyLeuThrProGluValGlnLysIleIleAlaAspValIleArgAsnProProValAsnSerAspMetSerLysIleSerLeuIleArgMetLeuValProGluAsnIleAspThrTyrLeuIleHisMetAlaIleGluIleLeuLysHisGlyProAspSerGlyLeuGlnProSerCysAspValAsnLysArgArgCysPheProGlySerGluGluIleCysSerSerSerLysArgSerLysGluGluValGlyIleAsnThrGluThrSerSerAlaGluArgLysArgArgLeuProValTrpPheAlaLysGlySerAspThrSerLysLysLeuMetAspLysThrLysArgGlyGlyLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298139.7:c.3493C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000553.6:c.3493C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298139.5:p.Gln1165Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000544.2:p.Gln1165Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}