HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501044.1:p.[Arg197_Leu198insTyrLysHisMetSer;Leu198_Ter199insAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLys] |
CA2694298609
ENST00000674127.1:c.593del
|