Allele Registry

Canonical Allele Identifier: PA916033466

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159732

RCV000223069

RCV000542658

RCV001193637

ClinVar Variation:

181965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly1788Ser	CA298269 NM_001351834.2:c.5362G>A