Allele Registry

Canonical Allele Identifier: PA916032191

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000211457

RCV000566647

ClinVar Variation:

226114

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys819Arg	CA6265024 NM_001351834.2:c.2455T>C