HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496943.1:p.[Leu178Ser;Leu180_Asp195delinsTrpTrpLysCysHisAlaArgThrProGluMetGluLeuAsnTrpIle;Glu197_Ala207delinsLysProThrArgMetProLeuMetArgValPro] |
CA3533983
ENST00000519499.2:c.532del
|