Allele Registry

Canonical Allele Identifier: PA293984

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129153

RCV000212065

RCV000233904

ClinVar Variation:

140905

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2453His	CA293982 NM_000051.4:c.7358G>A