HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000492349.2:p.[Lys547_Glu551delinsLeuLysArgLysLeu;Ser553_Lys555delinsAsnHis;Arg557_Ser568delinsAsnSerGluProCysTrpLeuGluProGln;Ile571_Gln573delinsThrProSerSer;Thr575_Asp576delinsLeuSer] |
CA2499217582
ENST00000638452.2:c.1637_1638dup
|