Allele Registry

Canonical Allele Identifier: PA916031574

Gene: ATM HGNC NCBI

ClinVar Allele:

132784

ClinVar RCV:

RCV000115130

RCV000168399

RCV000656756

RCV000780894

RCV001356891

RCV001762215

ClinVar Variation:

127327

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg337Cys	CA286702 NM_001351834.2:c.1009C>T