ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830298708
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530039
ClinVar RCV Id:
RCV000635624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ser16_Ser24del
CA658799529
NM_145862.2:c.46_72del