Allele Registry

Canonical Allele Identifier: PA916034155

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115238

RCV000122882

RCV000212054

RCV000587802

RCV002225325

RCV003492466

RCV004549566

ClinVar Variation:

127433

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2330Val	CA286954 NM_001351834.2:c.6988C>G