HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_742054.1:p.[Cys488_Tyr505delinsThrArgSerIleGlyThrThrCysTrpArgCysTrpThrCysThrLeuSerSer;Glu507_Phe508delinsThrThr;Asp510_Phe512delinsGlyProAla;Ser514Arg;Leu516_Phe520delinsProSer] |
CA658797039
NM_172057.3:c.1462_1471del
|