Allele Registry

Canonical Allele Identifier: PA2828385870

Gene: KAT6B HGNC NCBI

ClinVar RCV:

RCV000249396

RCV000443242

RCV001081925

RCV002518640

RCV004529439

ClinVar Variation:

260244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357067.1:p.Glu1183_Glu1185dup	CA5564961 NM_001370138.1:c.3548_3556dup CA668390895 NM_001370138.1:c.3556_3557insAAGAAGAAG