ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA186921
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000162769
RCV001226286
RCV001420739
ClinVar Variation:
183902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ser500Phe
CA186920
NM_007194.4:c.1499C>T