Allele Registry

Canonical Allele Identifier: PA658670650

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000534505

RCV000565189

RCV001355951

ClinVar Variation:

453719

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile2683Val	CA382561910 NM_000051.4:c.8047A>G