Allele Registry

Canonical Allele Identifier: PA916033270

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000562636

RCV004024501

ClinVar Variation:

482715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp1630Asn	CA382537200 NM_001351834.2:c.4888G>A