ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195181
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000166176
RCV000461326
RCV001564596
ClinVar Variation:
186561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ser194Cys
CA195180
NM_007194.4:c.580A>T