Allele Registry

Canonical Allele Identifier: PA916034609

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218643

RCV000236137

RCV000628082

RCV000764948

RCV004547528

ClinVar Variation:

230098

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg2691His	CA10579281 NM_001351834.2:c.8072G>A