ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953959
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000573178
RCV001217899
ClinVar Variation:
485517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Glu282Gln
CA411103385
NM_001005735.2:c.844G>C