Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA916033048

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481300

ClinVar RCV Id: RCV000567342 RCV001235108

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu1449Phe	CA6265438 NM_001351834.2:c.4347A>C CA382531987 NM_001351834.2:c.4347A>T