Canonical Allele Identifier: PA915954454
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142760
ClinVar RCV Id: RCV000132141 RCV000215450 RCV000780184 RCV001086106 RCV001030623 RCV001355781 RCV003149911
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005735.1:p.Arg449His
CA169341
NM_001005735.2:c.1346G>A