ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953767
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187113
ClinVar RCV Id:
RCV000166803
RCV000688703
RCV001531540
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ala233Val
CA196768
NM_001005735.2:c.698C>T