Canonical Allele Identifier: PA2827476925
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128044
ClinVar RCV Id: RCV000115982 RCV000197709 RCV000677873 RCV000212449 RCV001527478 RCV001355387 RCV001030625 RCV003448266 RCV002477284 RCV004529939 RCV000656834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.His304Tyr
CA288254
NM_001349956.2:c.910C>T