HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000318351.5:p.[Leu124del;Glu126_Tyr152delinsValAsnLysGluLeuLeuAspLeuGluSerGluLeuArgSerLeuGluLeuLeuProLeuArgLysPheSerLeuGlnIle] |
CA568406716
ENST00000320393.9:c.369del
|