ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477138
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128048
ClinVar RCV Id:
RCV000115986
RCV000212453
RCV000228584
RCV001356701
RCV003226200
RCV003483480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu327Lys
CA288262
NM_001349956.2:c.979G>A