Allele Registry

Canonical Allele Identifier: PA916035026

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115272

RCV000200530

RCV000212095

RCV001358118

RCV002271407

RCV003330438

RCV003467036

ClinVar Variation:

127466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu2990Lys	CA287036 NM_001351834.2:c.8968G>A