HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000812.2:p.[Phe482_Ser494delinsLeuThrLeuValTrpThrSerCysArgProLeuGlyHis;Gln497_Thr499del;Trp501_Gln503delinsAlaHis;Leu505_Leu509delinsGlyCysAsnHis;Pro511_Trp512del] |
CA2659852933
NM_000821.7:c.1446del
|