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: PA2499251199

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1171795

ClinVar RCV Id: RCV001525192 RCV002568808

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Trp2291Cys	CA382556785 NM_001351834.2:c.6873G>C CA382556786 NM_001351834.2:c.6873G>T