HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001230111.1:p.[Ala465_Ser466delinsValLeu;Val468delinsProGln;Asn470_Thr490delinsArgValGlnThrHisGluAspLysTrpHisHisLeuCysLeuArgCysProCysHisGlnGln;Lys492_Val495delinsProCys] |
CA2580614792
NM_001243182.2:c.1394_1395del
|