HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000482222.1:p.[Val179Cys;Tyr181_Met198delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn200_Asn208delinsValThrValProAlaTrpAlaAla] |
CA497925291
ENST00000622645.4:c.535del
|