HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_078951.2:p.[Arg516Lys;Ser518_Ala523delinsIle;Asp525Leu;Cys527_Glu528del;Leu530_Thr533del;Ser535_Ser537del;Val539_Asn540del;Lys543_Glu545delinsLeu] |
CA658683909
NM_024675.4:c.1546dup
|