HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000044.2:p.[Ala1227_Asn1237delinsProGluLeuLeuProProArgLeuAlaSerThr;Val1239_Gln1256delinsSerLeuGlnArgCysCysLeuArgThrArgTrpProArgSerArgSerSer] |
CA2830782745
NM_000053.4:c.3678del
|