ClinGen Allele Registry
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Canonical Allele Identifier:
PA645499551
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219795
RCV000223593
RCV000545753
RCV001192411
ClinVar Variation:
234170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Leu508Val
CA10577623
NM_007194.4:c.1522C>G