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: PA2573203772

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1501968

ClinVar RCV Id: RCV002010861 RCV002361380

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met2224Ile	CA382554867 NM_001351834.2:c.6672G>T CA382554868 NM_001351834.2:c.6672G>C CA382554869 NM_001351834.2:c.6672G>A