HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000500814.2:p.[Tyr119delinsSerAspAsnGlyThrPheThrCysAspValLysAsnProProAspIleValGlyLysThrSerGlnValThrLeuTyrValPheGluLysValProThrArgTyrGlyValValLeuGlyAlaValIleGlyGlyValLeuGlyValValLeuLeuLeuLeuLeuLeuPheTyrValValArgTyrCysTrpLeuArgArgGlnAlaAlaLeuGlnArgArgLeuSerAlaMetGluLysGlyLysLeuHisLysProGlyLysAspAlaSerLysArgGlyArgGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTer;Arg250del] |