ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827475454
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20639
ClinVar RCV:
RCV000114762
RCV000131201
RCV000205850
RCV001789748
RCV001818140
RCV002476934
RCV003333689
RCV004532294
ClinVar Variation:
5600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu172Lys
CA117644
NM_001349956.2:c.514G>A