Allele Registry

Canonical Allele Identifier: PA645503849

Gene: ATM HGNC NCBI

ClinVar Allele:

398002

ClinVar RCV:

RCV000457188

RCV000574776

ClinVar Variation:

407695

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser2498Ala	CA16613206 NM_000051.4:c.7492T>G