HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_002582.3:p.[Val180dup;Glu182Gly;Val184_Asp186delinsGlySerSer;Glu188_Lys191delinsArgTrpGlyVal;Leu193_Gly197delinsGlnMetProProPhe;Pro199_Leu200delinsGlyVal;Leu202_Gln203delinsSerAlaPheThr;Pro205_Trp210delinsAlaPheGlyGlnGlnLeu] |
CA2499894373
NM_002591.4:c.540_541insGTGCTGGGTG
|