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: PA916032412

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 631294

ClinVar RCV Id: RCV000777468 RCV001369013

ClinVar Variation Id: 1473322

ClinVar RCV Id: RCV002005223

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met949Ile	CA382546705 NM_001351834.2:c.2847G>A CA382546706 NM_001351834.2:c.2847G>C CA382546709 NM_001351834.2:c.2847G>T