HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000482222.1:p.[His175_Val179delinsLeuValTrpTrpCys;Tyr181_Met204delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925301
ENST00000622645.4:c.524del
|