Allele Registry

Canonical Allele Identifier: PA916032813

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001021053

RCV001223387

ClinVar Variation:

824161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys1251Tyr	CA382524203 NM_001351834.2:c.3752G>A