ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499234691
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1002924
ClinVar RCV Id:
RCV001299417
RCV002418903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ser400Cys
CA411097570
NM_001005735.2:c.1199C>G