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: PA2825031203

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 953512

ClinVar RCV Id: RCV001225815

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val555Leu	CA382535083 NM_000051.4:c.1663G>C CA382535085 NM_000051.4:c.1663G>T