HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000518393.1:p.[Arg514delinsGlyValLysTyrGlyTyrLeu;Cys515_Ter516insThrValGlyCysValLeuLeuSerLeuTyrSerAspThrLysCysCysIleLysVal] |
CA009277
ENST00000492474.6:c.1539del
|