ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827477490
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1370917
ClinVar RCV Id:
RCV001899453
RCV003355592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Leu350Val
CA411096544
NM_001349956.2:c.1048C>G