Allele Registry

Canonical Allele Identifier: PA658674480

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000551590

RCV000777904

ClinVar Variation:

453491

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Cys1251Arg	CA6265348 NM_000051.4:c.3751T>C