HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000493146.1:p.[Leu334_Gly335insAspGluThrArgIleValHisAsnArgAlaGln;Gly335_Ter336insAlaProAsnSerSerLysProHisGlyArgGlnPheProSerCysProSer] |
CA1000854048
ENST00000641471.1:c.1000del
|