HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000453346.1:p.[Cys231_Arg237delinsTrpLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Cys261delinsMetAlaAlaGlySerValThrGlyAsnMetThr] |
CA2582473392
ENST00000558013.5:c.693del
|