HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252444.6:p.[Leu432_Asp446delinsArgTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp448del;Cys450_Tyr461delinsProAlaAlaSerSerAla] |
CA2695228144
ENST00000252444.10:c.1295del
|