ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827474571
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1382667
ClinVar RCV Id:
RCV001890460
RCV004041271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ala91Val
CA411090436
NM_001349956.2:c.272C>T