Allele Registry

Canonical Allele Identifier: PA2828383132

Gene: KAT6B HGNC NCBI

ClinVar RCV:

RCV000249396

RCV000443242

RCV001081925

RCV002518640

RCV004529439

ClinVar Variation:

260244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357064.1:p.Glu585_Glu587dup	CA5564961 NM_001370135.1:c.1754_1762dup CA668390895 NM_001370135.1:c.1762_1763insAAGAAGAAG