ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827475256
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410008
ClinVar RCV Id:
RCV000461191
RCV001022201
RCV000590326
RCV002468941
RCV003150220
RCV003483625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.His143Tyr
CA16616343
NM_001349956.2:c.427C>T