Allele Registry

Canonical Allele Identifier: PA2828302567

Gene: PAX6 HGNC NCBI

ClinVar Variation Id: 3470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355854.1:p.Arg75Cys	CA116221 NM_001368925.2:c.223C>T