ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830302482
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126909
ClinVar RCV Id:
RCV000114765
RCV000160437
RCV000196666
RCV000515378
RCV000449435
RCV001147096
RCV001356532
RCV001798305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Asn417Asp
CA230682
NM_145862.2:c.1249A>G