HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000545.1:p.[Ala196Arg;Ala198_Ala200delinsGlyLeuArg;Cys202_Ser204delinsLeuLeuPhe;Ser206_Tyr214delinsLeuArgLeuTrpValSerGluLeuLeu;Ser216_Asp219delinsGlnArgProArg;Tyr221_Met225delinsLeuProPheSerHis] |
CA227637
NM_000554.6:c.585dup
|