Canonical Allele Identifier: PA1139672978
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 949319
ClinVar RCV Id: RCV001220755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005735.1:p.Leu375Ile
CA411099443
NM_001005735.2:c.1123C>A