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: PA916034135

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 524231

ClinVar RCV Id: RCV000627847 RCV000772770

ClinVar Variation Id: 1756271

ClinVar RCV Id: RCV002362442

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met2315Ile	CA382557268 NM_001351834.2:c.6945G>A CA382557269 NM_001351834.2:c.6945G>C CA382557272 NM_001351834.2:c.6945G>T