Allele Registry

Canonical Allele Identifier: PA916034630

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115260

RCV000234753

RCV000235110

RCV000779774

RCV003467033

ClinVar Variation:

127454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val2705Ile	CA287006 NM_001351834.2:c.8113G>A