HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001245203.1:p.[Phe512_Arg514delinsLeuArgGlyValLysTyrGlyTyrLeu;Cys515_Ter516insThrValGlyCysValLeuLeuSerLeuTyrSerAspThrLysCysCysIleLysVal] |
CA16611255
NM_001258274.3:c.1536del
|