ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580127298
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2064674
ClinVar RCV Id:
RCV002953602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Val506Ala
CA411094501
NM_001005735.2:c.1517T>C