Allele Registry

Canonical Allele Identifier: PA168143

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131432

RCV002514745

ClinVar Variation:

142350

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2722Val	CA168141 NM_000051.4:c.8164C>G