ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826444903
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000217861
RCV000485639
RCV000539842
RCV000766899
ClinVar Variation:
233743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Cys199Tyr
CA10581044
NM_001257387.2:c.596G>A