Allele Registry

Canonical Allele Identifier: PA916034693

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000217852

RCV001301600

ClinVar Variation:

230427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2750Ile	CA10579291 NM_001351834.2:c.8248T>A