ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499298223
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003619
ClinVar RCV Id:
RCV001300193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ser53Ala
CA411090974
NM_145862.2:c.157T>G