ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477039
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220179
ClinVar RCV Id:
RCV000204142
RCV000481497
RCV001798682
RCV004530228
RCV000574409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Cys318Tyr
CA348388
NM_001349956.2:c.953G>A