Allele Registry

Canonical Allele Identifier: PA157152

Gene: ATM HGNC NCBI

Linked Data

ClinVar RCV:

RCV000115221

RCV000120151

RCV000122864

RCV000513642

RCV001253480

RCV001356569

RCV001798320

RCV002225321

RCV002225322

RCV003036051

ClinVar Variation:

127416

2127852

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly2023Arg	CA157150 NM_000051.4:c.6067G>A CA382550073 NM_000051.4:c.6067G>C