HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119584.1:p.[His214_Val218delinsLeuValTrpTrpCys;Tyr220_Met243delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925301
NM_001126112.3:c.641del
|