Allele Registry

Canonical Allele Identifier: PA197608

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000167148

RCV000537024

ClinVar Variation:

187422

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2980Ile	CA197606 NM_000051.4:c.8938C>A