HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000382.3:p.[Phe416del;Arg418_Glu424delinsThr;Val426_Leu430delinsPheIleProGlyGly;Ser432_Leu436delinsCysAsnGluVal;Pro438_Ser445delinsGluLeu] |
CA2574741201
NM_000391.4:c.1245_1246del
|