HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000451605.1:p.[Tyr182_Val188del;Cys191_Ala212del;Cys215_Gln219del;Ile221_His225delinsSer;Arg227Ala;Arg229_Val241del;Leu243_Leu247del;Ile249_Cys253delinsHis;Pro256_Phe258del;His260Ser;Thr262del;Ile264_Leu266delinsSer;Pro268_His270delinsSerSerArg;Thr272_Asp294delinsSerArgGln;Leu296_Ser302delinsTrp;Glu304Ter] |