HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001108450.1:p.[Gly173del;His175_Ser176delinsAlaGln;Asp178_Thr186delinsArgArgValLeuPro;Lys188_Glu197delinsValGluHisArgGlnValGlyHis;Lys199_Tyr202delinsAspValPheHis] |
CA2759857931
NM_001114978.2:c.517_518del
|