Canonical Allele Identifier: PA2827476205
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128089
ClinVar RCV Id: RCV000116033 RCV000228767 RCV000212440 RCV001192409 RCV001355901 RCV001251038 RCV001391209 RCV001579302 RCV003320458 RCV003483483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.Gly239Ala
CA288331
NM_001349956.2:c.716G>C