Allele Registry

Canonical Allele Identifier: PA916031654

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000479676

RCV000628025

RCV002323837

ClinVar Variation:

422299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile389Val	CA16619108 NM_001351834.2:c.1165A>G