HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000497957.1:p.[Leu520Cys;Ala522_Gly528del;Pro530_Thr537delinsTrpAspSerSerGlu;Ser539_Leu542delinsTyr;His544_Met546delinsTrpCysIle;His548_Ser549del] |
CA326926
ENST00000648260.1:c.1559del
|