HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000027.2:p.[Ile168delinsMetPheAlaLys;Lys171Ile;Leu173His;Arg175del;Leu177_Ile179delinsTyrVal;Glu181_Ser187delinsAsnThrCysArgSerArg;Gln189_Pro192delinsArgGlySerLeu;Thr194del;Ser196_Tyr198delinsLeuProAsn] |
CA1020435
NM_000036.2:c.504del
|