Allele Registry

Canonical Allele Identifier: PA169709

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000132364

RCV000204555

RCV000237005

ClinVar Variation:

142896

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu1322Ile	CA169707 NM_000051.4:c.3964C>A