ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034815
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430406
ClinVar RCV Id:
RCV000493266
RCV000534120
RCV002413361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2832Leu
CA382518109
NM_001351834.2:c.8495G>T