HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000354813.2:p.[Gln434delinsProArgPheProThrLeuThrAsnIleAsnGluAsnAsnProThrLeuLeuAsnProIleLysArgLeuAlaAlaGlySerLeuPheAlaGlyPheLeuIleThrAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Leu558del] |