HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001706.2:p.[Arg476del;Glu478_Arg480delinsArgSerGly;Thr482_Gln487delinsProSerSerSerCys;Val489_Tyr494delinsArgCysTrpArgThrSer;Ala496_Gln504delinsArgProProSerGlySerThrSerCysSer;Pro505_Ter506insSer] |
CA2526257298
NM_001715.3:c.1427_1430del
|