HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000424104.2:p.[Thr118_Ser127delinsAsnSerGlnValCysAspLeuHisValLeu;Ala129_Cys141delinsCysProGlnGlnAspValLeuProThrGlyGlnAspLeu;Val143_Val147delinsCysAlaAlaValGly] |
CA645589258
ENST00000508793.6:c.352dup
|