Canonical Allele Identifier: PA2827474483
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5594
ClinVar RCV Id: RCV000005942 RCV000120551 RCV000132520 RCV000196893 RCV000513573 RCV001355309 RCV002225260 RCV001797994
ClinVar Variation Id: 628274
ClinVar RCV Id: RCV000772624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.Pro85Leu
CA117633
NM_001349956.2:c.254C>T
CA913189037
NM_001349956.2:c.252_254delinsGCT