HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001308319.2:p.[Pro327_Pro329delinsLeuProLeu;Thr331del;Leu333_Gln343delinsPhePheIleThrAlaThrPheAlaArgSerSer;Asp345_Ser346delinsGluThr;Thr348_His354delinsGlnProAlaMetProAlaSerThr;Asn356Thr] |
CA539841530
NM_001321390.2:c.980del
|