Allele Registry

Canonical Allele Identifier: PA916033073

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115194

RCV000120138

RCV000199082

RCV000656760

RCV001249853

RCV003467026

ClinVar Variation:

127389

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val1468Ile	CA157119 NM_001351834.2:c.4402G>A