ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476535
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2890525
ClinVar RCV Id:
RCV003608574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Tyr270Asp
CA411097860
NM_001349956.2:c.808T>G