ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954665
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000476206
RCV002393136
ClinVar Variation:
410063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Arg517Gly
CA16616546
NM_001005735.2:c.1549C>G