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: PA916032261

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 418904

ClinVar RCV Id: RCV000483479 RCV000569986 RCV000821523 RCV003470538

ClinVar Variation Id: 453421

ClinVar RCV Id: RCV000558049 RCV002431497

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp851Glu	CA16619142 NM_001351834.2:c.2553T>G CA382543740 NM_001351834.2:c.2553T>A