Canonical Allele Identifier: PA2827474912
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128071
ClinVar RCV Id: RCV000116012 RCV000204429 RCV000212414 RCV001263516 RCV001526815 RCV001374534 RCV001535470 RCV001258041 RCV003114263 RCV002498498 RCV001787918 RCV001798355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.Arg117Gly
CA288301
NM_001349956.2:c.349A>G