HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000506959.1:p.[Glu117Val;Trp119_His122delinsGlnValSerGly;Lys123_Ter124insGlyProSerLeuGluValGlyHisArgGlnGlnGluAlaProAspLeuPheGlnTrpLeuCysSerAsp] |
CA2664369165
ENST00000684243.1:c.350_360del
|