ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830299876
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000568786
RCV000796300
ClinVar Variation:
481729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Tyr139His
CA411107956
NM_145862.2:c.415T>C