ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033014
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141884
ClinVar RCV Id:
RCV000130581
RCV000222514
RCV000467455
RCV001257474
RCV002225432
RCV002307403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala1427Thr
CA166697
NM_001351834.2:c.4279G>A