ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826445100
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449667
ClinVar RCV Id:
RCV000523765
RCV000524869
RCV000580881
RCV004527628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Val248Ala
CA10167657
NM_001257387.2:c.743T>C