ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830299925
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000461191
RCV000590326
RCV001022201
RCV002468941
RCV003150220
RCV003483625
ClinVar Variation:
410008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.His143Tyr
CA16616343
NM_145862.2:c.427C>T