ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830303167
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141856
ClinVar RCV Id:
RCV000130543
RCV000197078
RCV000587712
RCV000764367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Leu483Val
CA166627
NM_145862.2:c.1447C>G