ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478875
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222912
RCV001338616
ClinVar Variation:
232464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Ala473Thr
CA10581020
NM_001349956.2:c.1417G>A