Allele Registry

Canonical Allele Identifier: PA916034104

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115233

RCV000168356

RCV000588207

RCV000757936

RCV001798322

RCV002281932

RCV004549565

ClinVar Variation:

127428

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly2287Ala	CA286944 NM_001351834.2:c.6860G>C