Allele Registry

Canonical Allele Identifier: PA916032877

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131248

RCV000234723

RCV000608362

RCV001356054

RCV001704057

RCV001798449

RCV002225443

ClinVar Variation:

142243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly1307Arg	CA167867 NM_001351834.2:c.3919G>A CA382525779 NM_001351834.2:c.3919G>C