HGVS (amino-acid) | Matching Registered Transcripts |
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NP_001302420.1:p.[Tyr33delinsThrAspArgGluValHisGlyAlaValGlySerArgValThrLeuHisCysSerPheTrpSerSerGluTrpValSerAspAspIleSerPheThrTrpArgTyrGlnProGluGlyGlyArgAspAlaIleSerIlePheHisTyrAlaLysGlyGlnProTyrIleAspGluValGlyThrPheLysGluArgIleGlnTrpValGlyAspProArgTrpLysAspGlySerIleValIleHisAsnLeuAspTyrSerAspAsnGlyThrPheThrCysAspValLysAsnProProAspIleValGlyLysThrSerGlnValThrLeuTyrValPheGluLysValProThrArgTyrGlyValValLeuGlyAlaValIleGlyGlyValLeuGlyValValLeuLeuLeuLeuLeuLeuPheTyrValValArgTyrCysTrpLeuArgArgGlnAlaAlaLeuGlnArgArgLeuSerAlaMetGluLysGlyLysLeuHisLysProGlyLysAspAlaSerLysArgGlyArgGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTer;Lys248_Asp311delinsTer] |