HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000432421.1:p.[Asn50delinsThrThrPro;Asp51_Ser52insGlyLysLeuArgHisThrGlyArgArgGlnArgArgLeuSerLeuArgSerLeuAlaSerAlaPheSerProVal] |
CA2576336283
ENST00000475762.5:c.149del
|