ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573204235
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393413
ClinVar RCV Id:
RCV001884525
RCV003166993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn2697Ser
CA382562063
NM_001351834.2:c.8090A>G