HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000493153.1:p.[Leu305_Gly306insAspGluThrArgIleValHisAsnArgAlaGln;Gly306_Ter307insAlaProAsnSerSerLysProHisGlyArgGlnPheProSerCysProSer] |
CA1000854048
ENST00000642050.2:c.913del
|