ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698792
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
841429
ClinVar RCV Id:
RCV001043647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ile189Ser
CA411107079
NM_007194.4:c.566T>G