Allele Registry

Canonical Allele Identifier: PA916033174

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000528025

RCV000564870

RCV003464121

ClinVar Variation:

453531

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile1547Val	CA6265524 NM_001351834.2:c.4639A>G