Allele Registry

Canonical Allele Identifier: PA091779

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131173

RCV000169274

RCV000212096

RCV003162585

RCV003474775

ClinVar Variation:

142187

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg3008Cys	CA294307 NM_000051.4:c.9022C>T