ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139671795
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
920756
ClinVar RCV Id:
RCV001179706
RCV002558918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Glu192Gln
CA411107781
NM_001005735.2:c.574G>C