HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000354529.6:p.[Glu479del;Val481_Glu485delinsSerGlyIleHisGly;Ser487_Gln491del;Leu494_Glu502delinsAlaSerAlaGlyAla;Leu504_Glu508delinsGln] |
CA645601210
ENST00000361166.10:c.1435_1436del
|