HGVS (amino-acid) | Transcript change |
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NP_001339229.1:p.[Cys278delinsAlaProSerArgValArgArgLeuProAspGlyGlnLeuGlnValThrTrpGluAspSerThrThrGlyLysGluAspThrGlyThrPheAspThrValLeuTrpAlaIleGlyArgValProAspThrArgSerLeuAsnLeuGluLysAlaGlyValAspThrSerProAspThrGlnLysIleLeuValAspSerArgGluAlaThrSerValProHisIleTyrAlaIleGlyAspValValGluGlyArgProGluLeuThrProIleAlaIleMetAlaGlyArgLeuLeuValGlnArgLeuPheGlyGlySerSerAspLeuMetAspTyrAspAsnValProThrThrValPheThrProLeuGluTyrGlyCysValGlyLeuSerGluGluGluAlaValAlaArgHisGlyGlnGluHisValGluValTyrHisAlaHisTyrLysProLeuGluPheThrValAlaGlyArgAspAlaSerGlnCysTyrValLysMetValCysLeuArgGluProProGlnLeuValLeuGlyLeuHisPheLeuGlyProAsnAlaGlyGluValThrGlnGlyPheAlaLeuGlyIleLysCysGlyAlaSerTyrAlaGlnValMetArgThrValGlyIleHisProThrCysSerGluGluValValLysLeuArgIleSerLysArgSerGlyLeuAspProThrValThrGlyCysTer;Gly523Ter] |