Allele Registry

Canonical Allele Identifier: PA298253

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159726

RCV000217727

RCV000467957

RCV003467232

ClinVar Variation:

181959

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg1489His	CA298251 NM_000051.4:c.4466G>A