HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.2:p.[Val216_Cys229delinsAlaMetSerArgLeuArgLeuAlaLeuThrValProProSer;Ile232_Met237delinsThrThr;Asn239_Arg248delinsValThrValProAlaTrpAlaAla] |
CA645588730
ENST00000503591.2:c.647_656del
|