Canonical Allele Identifier: PA2830127730
Gene: APEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2245850
ClinVar RCV Id: RCV004100329

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542379.1:p.Ser123Leu
CA389130907
NM_080648.3:c.368C>T