ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033796
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236748
ClinVar RCV Id:
RCV000228488
RCV002354629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2047Gly
CA10582836
NM_001351834.2:c.6140T>G