ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476815
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486837
ClinVar RCV Id:
RCV000571096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Cys295Trp
CA411097487
NM_001349956.2:c.885T>G