Allele Registry

Canonical Allele Identifier: PA286802

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115173

RCV000198992

RCV000515352

RCV000589242

RCV001260261

RCV001357199

RCV002225317

RCV004549546

ClinVar Variation:

127368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Cys107Tyr	CA286800 NM_000051.4:c.320G>A