HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438689.2:p.[Asp280_Phe285del;Lys287_Asp292delinsSerSerArgSerLeu;Ala294_Lys301delinsArgHisGlnLeuGln;Thr303_Val307delinsGlnProGln;Arg309Pro] |
CA981153094
ENST00000543245.6:c.839del
|