HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Ile40delinsSerProThr;Tyr42_Gly48delinsGlySerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Lys69delinsProAlaAsn] |
CA10584761
NM_000527.5:c.118del
|