ClinGen Allele Registry
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Canonical Allele Identifier:
PA645499653
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20639
ClinVar RCV:
RCV000114762
RCV000131201
RCV000205850
RCV001789748
RCV001818140
RCV002476934
RCV003333689
RCV004532294
ClinVar Variation:
5600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Glu282Lys
CA117644
NM_001005735.2:c.844G>A