HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001136241.1:p.[His1700_Ala1709delinsGlnLeuArgArgArgArgLysTrpThrSer;Val1711_Asp1716delinsCysGlyArgLysTyrArg;Glu1718_Glu1729del] |
CA2516470839
NM_001142769.3:c.5099dup
|