Allele Registry

Canonical Allele Identifier: PA658801489

Gene: ATM HGNC NCBI

ClinVar Variation Id: 524416

ClinVar RCV Id: RCV000628188

ClinVar Variation Id: 1007387

ClinVar RCV Id: RCV001304565

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Met1349Ile	CA382527861 NM_000051.4:c.4047G>T CA382527868 NM_000051.4:c.4047G>A CA382527874 NM_000051.4:c.4047G>C