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: PA2825035860

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 802790

ClinVar RCV Id: RCV000988730

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys2639Asn	CA382561510 NM_000051.4:c.7917G>C CA382561511 NM_000051.4:c.7917G>T