ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827477043
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
460787
ClinVar RCV Id:
RCV000543181
RCV000564558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Gly319Glu
CA411096869
NM_001349956.2:c.956G>A