Allele Registry

Canonical Allele Identifier: PA2828388416

Gene: KAT6B HGNC NCBI

ClinVar RCV:

RCV000249396

RCV000443242

RCV001081925

RCV002518640

RCV004529439

ClinVar Variation:

260244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357070.1:p.Glu1074_Glu1076dup	CA5564961 NM_001370141.1:c.3221_3229dup CA668390895 NM_001370141.1:c.3229_3230insAAGAAGAAG