Allele Registry

Canonical Allele Identifier: PA916033679

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000584470

RCV000812625

ClinVar Variation:

490628

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser1966Asn	CA382548560 NM_001351834.2:c.5897G>A