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: PA916033335

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 577267

ClinVar RCV Id: RCV000699969 RCV002281125 RCV002334345

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe1683Leu	CA382540436 NM_001351834.2:c.5047T>C CA382540448 NM_001351834.2:c.5049C>A CA382540450 NM_001351834.2:c.5049C>G