HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001001343.2:p.[Leu178Ser;Leu180_Asp195delinsTrpTrpLysCysHisAlaArgThrProGluMetGluLeuAsnTrpIle;Glu197_Ala207delinsLysProThrArgMetProLeuMetArgValPro] |
CA3533983
NM_001001343.4:c.532del
|