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: PA2573203974

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1443133

ClinVar RCV Id: RCV001953341 RCV002386785

ClinVar Variation Id: 2774027

ClinVar RCV Id: RCV003585713

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys331Asn	CA382531288 NM_001351834.2:c.993G>C CA382531296 NM_001351834.2:c.993G>T