HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000047.1:p.[Leu124del;Glu126_Tyr152delinsValAsnLysGluLeuLeuAspLeuGluSerGluLeuArgSerLeuGluLeuLeuProLeuArgLysPheSerLeuGlnIle] |
CA568406716
NM_000056.5:c.369del
|