Allele Registry

Canonical Allele Identifier: PA091775

Gene: ATM HGNC NCBI

ClinVar Allele:

180494

ClinVar RCV:

RCV000159749

RCV000196419

RCV000212048

RCV000762827

RCV001255479

RCV002288675

ClinVar Variation:

181981

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2227Cys	CA298317 NM_000051.4:c.6679C>T