Allele Registry

Canonical Allele Identifier: PA916034427

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000222572

RCV001200383

RCV003500513

ClinVar Variation:

231059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2541Arg	CA10579264 NM_001351834.2:c.7622T>G