ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915983109
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128089
ClinVar RCV Id:
RCV000116033
RCV000228767
RCV000212440
RCV001192409
RCV001355901
RCV001251038
RCV001391209
RCV001579302
RCV003320458
RCV003483483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Gly85Ala
CA288331
NM_001257387.2:c.254G>C