Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA916031332

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 490603

ClinVar RCV Id: RCV000583345 RCV001347772

ClinVar Variation Id: 618539

ClinVar RCV Id: RCV000757012 RCV000810049 RCV001805837

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe168Leu	CA382527432 NM_001351834.2:c.502T>C CA382527453 NM_001351834.2:c.504C>A CA382527455 NM_001351834.2:c.504C>G