HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000484033.1:p.[Ser171dup;Asp173_Pro185delinsLeuLeuGlnLeuSerThrGlySerGlyArgThrAlaAla;Pro187_Pro190delinsSerAlaAlaSer;His192Ser;His194_Leu199delinsArgSerHisGlnAlaGly] |
CA2695224406
ENST00000612452.4:c.512_513insC
|