Allele Registry

Canonical Allele Identifier: PA2828390053

Gene: KAT6B HGNC NCBI

ClinVar RCV:

RCV000249396

RCV000443242

RCV001081925

RCV002518640

RCV004529439

ClinVar Variation:

260244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357072.1:p.Glu1011_Glu1013dup	CA5564961 NM_001370143.1:c.3032_3040dup CA668390895 NM_001370143.1:c.3040_3041insAAGAAGAAG