ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827475139
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000568579
RCV001248007
RCV004527662
ClinVar Variation:
483397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Asp134Gly
CA411108009
NM_001349956.2:c.401A>G