ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826444648
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486837
ClinVar RCV Id:
RCV000571096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Cys141Trp
CA411097487
NM_001257387.2:c.423T>G