HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000443665.1:p.[His492Thr;Thr494_Leu502delinsHisArgArgTrpLysTyrProAla;Asn504_Arg514del] |
CA2695197873
ENST00000539477.5:c.1473dup
|