Allele Registry

Canonical Allele Identifier: PA916032947

Gene: ATM HGNC NCBI

ClinVar Allele:

183270

ClinVar RCV:

RCV000164614

RCV000167992

RCV000479421

RCV000780899

RCV003153441

ClinVar Variation:

185234

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gln1361Arg	CA191395 NM_001351834.2:c.4082A>G