ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573303288
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414286
ClinVar RCV Id:
RCV001928612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ser73Cys
CA411090731
NM_145862.2:c.218C>G