Allele Registry

Canonical Allele Identifier: PA286704

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115130

RCV000168399

RCV000656756

RCV000780894

RCV001356891

RCV001762215

ClinVar Variation:

127327

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg337Cys	CA286702 NM_000051.4:c.1009C>T