Allele Registry

Canonical Allele Identifier: PA916031823

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000530412

RCV000561046

RCV003330744

ClinVar Variation:

453377

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val519Ile	CA382534343 NM_001351834.2:c.1555G>A