ClinGen Allele Registry
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Canonical Allele Identifier:
PA658830895
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133892
ClinVar RCV Id:
RCV000120559
RCV000132487
RCV000203747
RCV000759042
RCV003149830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile491Ser
CA158102
NM_001005735.2:c.1472T>G