ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498413
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000465132
RCV000568008
RCV001555558
ClinVar Variation:
410020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ala230Pro
CA10167900
NM_007194.4:c.688G>C