Allele Registry

Canonical Allele Identifier: PA168723

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131765

RCV001048603

ClinVar Variation:

142567

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala1694Gly	CA168721 NM_000051.4:c.5081C>G