HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000339.2:p.[Tyr98_Arg103delinsSerHisCysSerIleGlu;Arg105_Gly127delinsGlyLeuIleGlnLeuTyrSerPheSerGluAlaLeuProSerAlaLeuGluMetGluSerPheLysAla] |
CA2658499287
NM_000348.4:c.293del
|