Allele Registry

Canonical Allele Identifier: PA1139737080

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001059108

RCV002348431

ClinVar Variation:

854135

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys1251Phe	CA382524209 NM_001351834.2:c.3752G>T