Allele Registry

Canonical Allele Identifier: PA916034577

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120160

RCV000214426

RCV000231221

RCV000656763

RCV002225366

RCV003315730

RCV004551180

ClinVar Variation:

133635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val2663Ala	CA157177 NM_001351834.2:c.7988T>C