Allele Registry

Canonical Allele Identifier: PA916033472

Gene: ATM HGNC NCBI

ClinVar Allele:

222091

ClinVar RCV:

RCV000206668

RCV000566874

RCV001354647

RCV002288821

ClinVar Variation:

219484

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile1792Thr	CA350670 NM_001351834.2:c.5375T>C