Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2828381898

Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 1266817

ClinVar RCV Id: RCV001670486 RCV002073179 RCV004536248

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357062.1:p.Leu756Phe	CA5564930 NM_001370133.1:c.2268G>T CA377294785 NM_001370133.1:c.2268G>C