ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827476804
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410030
ClinVar RCV Id:
RCV000469327
RCV000481362
RCV000579404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Asp294His
CA16616323
NM_001349956.2:c.880G>C