HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001263624.1:p.[His175_Val179delinsLeuValTrpTrpCys;Tyr181_Met204delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925301
NM_001276695.3:c.524del
|