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: PA2741867141

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2759130

ClinVar RCV Id: RCV003500202

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe1837Leu	CA382545717 NM_001351834.2:c.5509T>C CA382545735 NM_001351834.2:c.5511T>A CA382545737 NM_001351834.2:c.5511T>G