Allele Registry

Canonical Allele Identifier: PA2499251061

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001349874

RCV001762600

ClinVar Variation:

1045459

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys764Arg	CA382539720 NM_001351834.2:c.2291A>G