ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825276551
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925731
ClinVar RCV Id:
RCV001205195
RCV001187819
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile38Thr
CA411091371
NM_001005735.2:c.113T>C