HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000424630.1:p.[Ile396_Leu397insSerSerPheGluAspAlaArgSerAsnSerGluTyrTyr;Phe399delinsGluCysGluProAlaTrpLeuIleTyrTyrLeuIle] |
CA2671506636
ENST00000508393.5:c.1189del
|