ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478136
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
236599
ClinVar RCV:
RCV000223247
RCV000471573
ClinVar Variation:
232934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Val401Ile
CA10581028
NM_001349956.2:c.1201G>A