HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000468343.1:p.[Arg227delinsAlaValLeuHisSerPro;Ala230delinsMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIlePro] |
CA2631550172
ENST00000587377.5:c.679del
|