ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825034204
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954183
ClinVar RCV Id:
RCV001226597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys1903Arg
CA382547876
NM_000051.4:c.5708A>G