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      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Cys228Ter",
        "hgvsWellDefined": "NP_006758.2:p.Cys229_Ile840delinsAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.684C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.684C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Cys228Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Cys228Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}