HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000381.1:p.[Asn129_Ser130del;Glu132_Phe138delinsProGlnLysLeuGlnIle;Thr141_Ser145delinsSerCys;Ser147_Thr148delinsArgArg;Cys151_Thr158delinsHis] |
CA2580102040
NM_000390.4:c.386del
|