HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_077742.3:p.[Phe173_Cys180delinsCysHisTrpHisSerArgSerLeuSerLeu;Tyr182_Pro189delinsAlaLeuArgSerSerSerAlaGln;Ser191_Ser195delinsGlyValIleArgPro;Ala198_Pro202delinsAspValSer] |
CA2612989399
NM_024424.5:c.517_518insG
|