ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827477090
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141818
ClinVar RCV Id:
RCV000130486
RCV000206869
RCV000222009
RCV001270242
RCV001175336
RCV001355927
RCV001787089
RCV003448269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Tyr323Ser
CA166521
NM_001349956.2:c.968A>C