HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182727.1:p.[Asp227del;Glu229_Cys231delinsArgLysThr;Val233_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Arg257delinsMetAlaAlaGlySerValThr] |
CA16602311
NM_001195798.2:c.681del
|