Allele Registry

Canonical Allele Identifier: PA645503826

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218733

RCV000485580

RCV000701716

RCV003338466

ClinVar Variation:

231363

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu2457Ala	CA6266104 NM_000051.4:c.7370A>C