ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294378
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142361
ClinVar RCV Id:
RCV000131443
RCV000233973
RCV000588204
RCV001147094
RCV001290447
RCV002492512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Glu528Lys
CA294377
NM_007194.4:c.1582G>A