ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826445245
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142479
ClinVar RCV Id:
RCV000131614
RCV000198676
RCV000214263
RCV001251282
RCV000764369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Glu283Gln
CA168459
NM_001257387.2:c.847G>C