Allele Registry

Canonical Allele Identifier: PA196791

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166813

RCV000230218

RCV000588819

RCV002271439

RCV003462227

RCV003491911

ClinVar Variation:

187123

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val976Ala	CA196789 NM_000051.4:c.2927T>C