Allele Registry

Canonical Allele Identifier: PA286992

Gene: ATM HGNC NCBI

ClinVar Allele:

132903

ClinVar RCV:

RCV000115252

RCV000195623

RCV000488003

RCV000780920

RCV000786770

RCV003325459

ClinVar Variation:

127446

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2492Arg	CA286990 NM_000051.4:c.7475T>G