HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_872354.1:p.[Leu199_Tyr201delinsTrpAlaThrGly;Gln203_Leu206delinsThrSerSerSer;Pro208_Thr216delinsThrThrThrArgGlnMetGluProArgArgCys;Glu217_Glu218insAlaAla;Glu218_Val219insGlySer;Val219_Ter220insIle] |
CA2578626544
NM_182548.4:c.594del
|