HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000461235.2:p.[Glu44Gly;Leu46_Thr52delinsThrArgSerProValAlaHis;Leu54Pro;Ile56_Arg73delinsTyrCysSerArgCysAlaCysGlnValHisArgLeuArgTrpSerSerLysGln] |
CA2580092707
ENST00000575384.2:c.130dup
|