HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001305963.1:p.[Leu2207_His2219delinsAlaSerGlyGlySerGlyLeuHisArgTrpHisHisPro;Thr2221_Thr2222delinsAsnHis;Gln2224_Gln2234delinsProGluAlaValThrSerGlyArgSerLeuPro;Val2236Cys] |
CA2677221030
NM_001319034.2:c.6618dup
|