Canonical Allele Identifier: PA2830302304
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5603
ClinVar RCV Id: RCV000005953 RCV000115994 RCV000197718 RCV000210180 RCV000212459 RCV000388223 RCV000515286 RCV000586482 RCV000778654 RCV001449813 RCV001354412 RCV003492287 RCV003333691 RCV004532295
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_665861.1:p.Ser399Phe
CA250528
NM_145862.2:c.1196C>T