HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000365402.5:p.[Arg194del;Ter367_Asp368insSerHisGluAlaThrLeuArgCysTrpAlaLeuGlyPheTyrProAlaGluIleThrLeuThrTrpGlnArgAspGlyGluAspGlnThrGlnAspThrGluLeuValGluThrArgProAlaGlyAspGlyThrPheGlnLysTrpAlaAlaValValValProSerGlyGlnGluGlnArgTyrThrCysHisMetGlnHisGluGlyLeuGlnGluProLeuThrLeuSerTrpGluProSerSerGlnProThrIleProIleMetGlyIleValAlaGlyLeuAlaValLeuValValLeuAlaValLeuGlyAlaValValThrAlaMetMetCysArgArgLysSerSerGlyGlyLysGlyGlySerCysSerGlnAlaAlaCysSerAsnSerAlaGlnGlySerAspGluSerLeuIleThrCysLysAlaTer] |