HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001093638.1:p.[Glu330del;Pro332_Glu333delinsGlySer;Ser336_Ser337insLysLeu;Val338_Thr343delinsLeuHisProIleHisTrp;Glu345_Glu347delinsAlaGlyAsn;Ser349_Val350delinsCys;Leu352_Ter353insValThrArgThrGlnValGly] |
CA73686026
NM_001100168.1:c.988_989insC
|