ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827475593
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128086
ClinVar RCV Id:
RCV000116030
RCV000212436
RCV000206871
RCV000587105
RCV002490783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ile184Phe
CA288326
NM_001349956.2:c.550A>T