ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827474328
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116009
RCV000199067
RCV000210191
RCV000212407
RCV001149533
RCV001270935
RCV001356247
RCV002265610
RCV002465520
RCV003153376
RCV003338414
RCV004528806
ClinVar Variation:
128068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu64Lys
CA288298
NM_001349956.2:c.190G>A