HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[His214_Val218delinsIleValTrpTrpCys;Tyr220_Met243delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925302
NM_000546.6:c.640del
|