ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827475487
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129205
RCV000205087
RCV000590667
RCV001292616
RCV001731481
ClinVar Variation:
140933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Cys176Arg
CA294007
NM_001349956.2:c.526T>C