ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830301569
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142376
ClinVar RCV Id:
RCV000131462
RCV000226721
RCV000486217
RCV001798451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Lys317Glu
CA168192
NM_145862.2:c.949A>G