Allele Registry

Canonical Allele Identifier: PA645501632

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000213977

RCV000234243

RCV000575194

RCV002485436

RCV003338472

RCV003463608

ClinVar Variation:

234265

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg1086His	CA6265234 NM_000051.4:c.3257G>A