Allele Registry

Canonical Allele Identifier: PA916034218

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000167115

RCV000487239

RCV000627922

ClinVar Variation:

187391

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala2386Glu	CA197532 NM_001351834.2:c.7157C>A