ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673641
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926661
ClinVar RCV Id:
RCV001189357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile459Ser
CA411096555
NM_001005735.2:c.1376T>G