HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001007594.2:p.[Leu39_Ala44delinsArgArgTrpArgTrpArgTrpArgTrp;Ala46Cys;Ala48Thr;Ser50_Asp51delinsGlyPhe;Arg53_Val54delinsGly;Trp56_Pro63delinsArgGlnArgLeuThrLeuPhe;Ser65del;Gln67_Gly68delinsLysAla] |
CA597438128
NM_001007593.3:c.116del
|