ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580203681
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1729985
ClinVar RCV Id:
RCV002454701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys1101Glu
CA382517336
NM_001351834.2:c.3301A>G