HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000326281.8:p.[Ser533_Asp543del;Pro545_Val546del;Lys548Leu;Lys550_Lys552delinsIleProSer;Ile554Trp;Phe556_Ser563delinsGlyGln] |
CA2580613796
ENST00000318023.11:c.1596_1599del
|