ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825032828
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1520531
ClinVar RCV Id:
RCV002030817
RCV002352762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His1264Asn
CA382524602
NM_000051.4:c.3790C>A