HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001001890.1:p.[Ser50_His58delinsGlnHisGlyGlyGlyAlaGlyArgPro;Glu61_Ser67delinsArgAlaGlyAlaHisArgGln;Asn69_Trp79delinsGlnLeuProLeuLeuArgAlaAlaTyrAlaLeu] |
CA2697547499
NM_001001890.3:c.147dup
|