Canonical Allele Identifier: PA2827474248
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219642

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336885.1:p.Ser49Phe
CA349738
NM_001349956.2:c.146C>T