HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.2:p.[Val216_Val218delinsGlyTrpCys;Tyr220_Gly245delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAlaAla] |
CA497925297
ENST00000503591.2:c.647del
|