Allele Registry

Canonical Allele Identifier: PA163814

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129107

RCV000457240

RCV000586332

RCV001030521

RCV002228638

RCV003237338

ClinVar Variation:

140879

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg717Trp	CA163812 NM_000051.4:c.2149C>T