Allele Registry

Canonical Allele Identifier: PA916032811

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001021034

RCV002549532

ClinVar Variation:

824155

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser1250Pro	CA382524179 NM_001351834.2:c.3748T>C