Allele Registry

Canonical Allele Identifier: PA916031235

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115175

RCV000195412

RCV000211948

RCV000515264

RCV000588561

RCV001354149

RCV002225318

RCV004549547

ClinVar Variation:

127370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala112Thr	CA286806 NM_001351834.2:c.334G>A