HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000369.4:p.[Phe173_Cys180delinsCysHisTrpHisSerArgSerLeuSerLeu;Tyr182_Pro189delinsAlaLeuArgSerSerSerAlaGln;Ser191_Ser195delinsGlyValIleArgPro;Ala198_Pro202delinsAspValSer] |
CA2612989399
NM_000378.6:c.517_518insG
|