HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000261584.4:p.[Gly514Arg;Arg516Lys;Ser518_Ala523delinsIle;Asp525Leu;Cys527_Glu528del;Leu530_Thr533del;Ser535_Ser537del;Val539_Asn540del;Lys543Leu] |
CA891844523
ENST00000261584.9:c.1539dup
|