Allele Registry

Canonical Allele Identifier: PA165989

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000130230

RCV000196159

RCV000254719

RCV002281955

RCV003162582

RCV003467134

ClinVar Variation:

141634

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg3008His	CA165987 NM_000051.4:c.9023G>A