HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119584.1:p.[Val216_Val218delinsGlyTrpCys;Tyr220_Gly245delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrpAlaAla] |
CA497925297
NM_001126112.3:c.647del
|