Allele Registry

Canonical Allele Identifier: PA916031633

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000575478

RCV000627864

ClinVar Variation:

482748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser377Cys	CA382532444 NM_001351834.2:c.1130C>G