Allele Registry

Canonical Allele Identifier: PA891866364

Gene: ATM HGNC NCBI

ClinVar Allele:

480499

ClinVar RCV:

RCV000576405

RCV000777474

RCV000788912

RCV003459414

ClinVar Variation:

487450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338764.1:p.Ser111Asn	CA382521837 NM_001351835.2:c.332G>A