Allele Registry

Canonical Allele Identifier: PA916034283

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000130133

RCV000687430

RCV003441751

ClinVar Variation:

141557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile2432Phe	CA165771 NM_001351834.2:c.7294A>T