HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000311697.7:p.[Arg165Val;Gln167_Glu182delinsLysLysIleAlaIleIleProMetProGlnGlnTyrIleGluLeuLys;Thr184Gln;Arg186_Lys194delinsGlySerGlyMetTrpPro] |
CA440227675
ENST00000312465.12:c.493del
|