Allele Registry

Canonical Allele Identifier: PA2499250854

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001362560

RCV001820061

RCV002420793

ClinVar Variation:

1054111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp2721Asn	CA382562473 NM_001351834.2:c.8161G>A