ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827474429
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1358396
ClinVar RCV Id:
RCV001904157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu76Gln
CA411090697
NM_001349956.2:c.226G>C