HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.2:p.[Val218Cys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Asn247delinsValThrValProAlaTrpAlaAla] |
CA497925291
ENST00000503591.2:c.652del
|