HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000310594.4:p.[Leu178Ser;Leu180_Asp195delinsTrpTrpLysCysHisAlaArgThrProGluMetGluLeuAsnTrpIle;Glu197_Ala207delinsLysProThrArgMetProLeuMetArgValPro] |
CA3533983
ENST00000312349.5:c.532del
|