Canonical Allele Identifier: PA2830301819
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128044
ClinVar RCV Id: RCV000115982 RCV000197709 RCV000677873 RCV000212449 RCV001527478 RCV001355387 RCV001030625 RCV003448266 RCV002477284 RCV004529939 RCV000656834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_665861.1:p.His342Tyr
CA288254
NM_145862.2:c.1024C>T