HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Gln242_Gly251delinsArgAlaLeuMetGluThrAla;Arg253_Asp263delinsMetAlaAlaGlySerValThrGlyAsn;Ser265_Val271delinsThrAlaArgThr] |
CA2695228114
NM_000527.5:c.725del
|