ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112474
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410015
ClinVar RCV Id:
RCV000566309
RCV000475251
RCV001528284
RCV003114586
RCV003483626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Tyr390Cys
CA16616553
NM_007194.4:c.1169A>G