Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2573204448

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1692524

ClinVar RCV Id: RCV002258568 RCV003500694

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu722Phe	CA382538780 NM_001351834.2:c.2166G>C CA382538782 NM_001351834.2:c.2166G>T