Allele Registry

Canonical Allele Identifier: PA916032160

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000130389

RCV000479754

RCV000627981

RCV001175038

RCV003460926

ClinVar Variation:

141757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asn796His	CA166309 NM_001351834.2:c.2386A>C