Allele Registry

Canonical Allele Identifier: PA916032814

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000551590

RCV000777904

ClinVar Variation:

453491

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys1251Arg	CA6265348 NM_001351834.2:c.3751T>C