HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000570.1:p.[Glu330del;Pro332_Glu333delinsGlySer;Ser336_Ser337insLysLeu;Val338_Thr343delinsLeuHisProIleHisTrp;Glu345_Glu347delinsAlaGlyAsn;Ser349_Val350delinsCys;Leu352_Ter353insValThrArgThrGlnValGly] |
CA73686026
NM_000579.4:c.988_989insC
|