ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476326
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
643582
ClinVar RCV Id:
RCV000797315
RCV004027590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Lys250Arg
CA411099893
NM_001349956.2:c.749A>G