Allele Registry

Canonical Allele Identifier: PA294002

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129176

RCV000195658

RCV000416037

RCV000515396

RCV000855571

RCV001357003

ClinVar Variation:

140916

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg568Ile	CA294000 NM_000051.4:c.1703G>T