Allele Registry

Canonical Allele Identifier: PA193141

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000165342

RCV000197298

RCV000512906

RCV000764943

RCV001193059

RCV002288746

RCV003491896

ClinVar Variation:

185845

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2459Cys	CA193139 NM_000051.4:c.7375C>T