Canonical Allele Identifier: PA915954747
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142479
ClinVar RCV Id: RCV000131614 RCV000198676 RCV000214263 RCV001251282 RCV000764369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005735.1:p.Glu547Gln
CA168459
NM_001005735.2:c.1639G>C