ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477157
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115987
RCV000212454
RCV000230538
RCV001270934
RCV003114262
ClinVar Variation:
128049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Val328Leu
CA288264
NM_001349956.2:c.982G>C