HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001280126.1:p.His112_Leu142delinsGlnArgValMetArgThrThrAlaThrSerGlyProSerArgProAlaLeuArgProSerThrThrSerThrTrpArgThrTrpThrSer |
CA2630855516
NM_001293197.2:c.336del
|