HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000488924.1:p.[Val179Cys;Tyr181_Met198delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn200_Asn208delinsValThrValProAlaTrpAlaAla] |
CA497925291
ENST00000635293.1:c.535del
|