ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827474249
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652055
ClinVar RCV Id:
RCV000807541
RCV004028618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ser49Pro
CA10168068
NM_001349956.2:c.145T>C