ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826444534
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
959676
ClinVar RCV Id:
RCV001233064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.His118Pro
CA411097829
NM_001257387.2:c.353A>C