HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000537.3:p.[Val216_Val218delinsGlyTrpCys;Tyr220_Gly245delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAlaAla] |
CA497925297
NM_000546.6:c.647del
|