ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827476262
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_001336885.1:p.Leu242Gln
CA190236
NM_001349956.2:c.725T>A