Allele Registry

Canonical Allele Identifier: PA249002

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115249

RCV000119204

RCV000202803

RCV000589438

RCV001356727

RCV001798325

RCV004549571

ClinVar Variation:

127443

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Cys2464Arg	CA249000 NM_000051.4:c.7390T>C