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: PA2741932182

Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2909667

ClinVar RCV Id: RCV003732371 RCV004374262

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006757.2:p.Met1470Ile	CA175939412 NM_006766.3:c.4410G>C CA371065873 NM_006766.3:c.4410G>T CA371065874 NM_006766.3:c.4410G>A