HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_057502.2:p.[Glu524del;Val526_Glu530delinsSerGlyIleHisGly;Ser532_Gln536del;Leu539_Glu547delinsAlaSerAlaGlyAla;Leu549_Glu553delinsGln] |
CA645601210
NM_016418.5:c.1570_1571del
|