Allele Registry

Canonical Allele Identifier: PA164566

Gene: ATM HGNC NCBI

ClinVar Allele:

150851

ClinVar RCV:

RCV000129510

RCV000196259

RCV002262749

RCV003460894

ClinVar Variation:

141137

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile2247Val	CA164564 NM_000051.4:c.6739A>G