Allele Registry

Canonical Allele Identifier: PA916034602

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000534505

RCV000565189

RCV001355951

ClinVar Variation:

453719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile2683Val	CA382561910 NM_001351834.2:c.8047A>G