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: PA1139738960

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 946015

ClinVar RCV Id: RCV001216789

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met1916Ile	CA382547994 NM_001351834.2:c.5748G>T CA382547995 NM_001351834.2:c.5748G>A CA382547996 NM_001351834.2:c.5748G>C