Allele Registry

Canonical Allele Identifier: PA916034083

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122880

RCV000159644

RCV000588200

RCV001250436

RCV001824286

ClinVar Variation:

135776

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala2274Thr	CA298037 NM_001351834.2:c.6820G>A