ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300416
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128082
ClinVar RCV Id:
RCV000116026
RCV000212429
RCV000230801
RCV002483188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ile189Val
CA288319
NM_145862.2:c.565A>G