Allele Registry

Canonical Allele Identifier: PA645504334

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218643

RCV000236137

RCV000628082

RCV000764948

RCV004547528

ClinVar Variation:

230098

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2691His	CA10579281 NM_000051.4:c.8072G>A