Allele Registry

Canonical Allele Identifier: PA166699

Gene: ATM HGNC NCBI

ClinVar Allele:

151598

ClinVar RCV:

RCV000130581

RCV000222514

RCV000467455

RCV001257474

RCV002225432

RCV002307403

ClinVar Variation:

141884

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala1427Thr	CA166697 NM_000051.4:c.4279G>A