ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477914
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120559
RCV000132487
RCV000203747
RCV000759042
RCV003149830
ClinVar Variation:
133892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ile381Ser
CA158102
NM_001349956.2:c.1142T>G