HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001357180.2:p.[Ala507_Trp513delinsArgProArgSerArg;Glu515_Glu516del;Glu519delinsLysPro;Arg521_Arg523delinsLysAlaGly;Pro525_Lys530delinsGlyAlaHisGlyGlySer;Glu532_Pro535delinsSerGlnArgSer;Pro536_Pro537insArgArg] |
CA2580084432
NM_001370251.2:c.1519_1522del
|