Canonical Allele Identifier: PA2828294778
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 430901
ClinVar RCV Id: RCV000603782

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355823.1:p.Arg44Pro
CA379959478
NM_001368894.2:c.131G>C