ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478546
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142479
ClinVar RCV Id:
RCV000131614
RCV000198676
RCV000214263
RCV001251282
RCV000764369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu437Gln
CA168459
NM_001349956.2:c.1309G>C