ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915983131
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184848
ClinVar RCV Id:
RCV000164175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Leu88Gln
CA190236
NM_001257387.2:c.263T>A