HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000531.2:p.[Ala4304_Arg4322delinsProCysGluAlaSerAlaThrAlaAlaCysGlyGlyAlaCysGlyGlyCysGlyGly;Thr4324delinsArgPro;Glu4327_Ala4333delinsArgProProGlnTrpArg] |
CA2814346152
NM_000540.3:c.12910del
|