Allele Registry

Canonical Allele Identifier: PA645500932

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000211457

RCV000566647

ClinVar Variation:

226114

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Cys819Arg	CA6265024 NM_000051.4:c.2455T>C