Allele Registry

Canonical Allele Identifier: PA916031290

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000525165

RCV003278875

RCV003483654

ClinVar Variation:

453518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu145Arg	CA382525216 NM_001351834.2:c.434T>G