ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300467
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
483399
ClinVar RCV Id:
RCV000563898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Lys197Ile
CA411106913
NM_145862.2:c.590A>T