ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825031419
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719973
ClinVar RCV Id:
RCV002304117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu650Gln
CA382536671
NM_000051.4:c.1948G>C