ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573175459
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1370917
ClinVar RCV Id:
RCV001899453
RCV003355592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Leu460Val
CA411096544
NM_001005735.2:c.1378C>G