HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000482258.1:p.[Val216_Cys229delinsAlaMetSerArgLeuArgLeuAlaLeuThrValProProSer;Ile232_Met237delinsThrThr;Asn239_Arg248delinsValThrValProAlaTrpAlaAla] |
CA645588730
ENST00000617185.4:c.647_656del
|