HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001745.2:p.[Val101_Ala115delinsArgAlaAlaTyrAlaLeuAlaLeuGlnGlnAspProAlaHisArg;Lys117_Leu121delinsGlnGlyGlyGlyProArg;Asp123_Leu129delinsCysSerArgTrpHisSerGly] |
CA512318847
NM_001754.5:c.299_300insG
|