Canonical Allele Identifier: PA2828298081
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 430901
ClinVar RCV Id: RCV000603782

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355839.1:p.Arg125Pro
CA379959478
NM_001368910.2:c.374G>C