ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827474912
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116012
RCV000204429
RCV000212414
RCV001258041
RCV001263516
RCV001374534
RCV001526815
RCV001535470
RCV001787918
RCV001798355
RCV002498498
RCV003114263
ClinVar Variation:
128071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Arg117Gly
CA288301
NM_001349956.2:c.349A>G