Allele Registry

Canonical Allele Identifier: PA916033096

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159726

RCV000217727

RCV000467957

RCV003467232

ClinVar Variation:

181959

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg1489His	CA298251 NM_001351834.2:c.4466G>A