Allele Registry

Canonical Allele Identifier: PA916034103

Gene: ATM HGNC NCBI

ClinVar Allele:

183370

ClinVar RCV:

RCV000164364

RCV000234176

RCV000485783

RCV001201232

RCV001355759

RCV003467292

ClinVar Variation:

185012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly2287Glu	CA190777 NM_001351834.2:c.6860G>A