Canonical Allele Identifier: PA2828298317
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355839.1:p.Gln503_Ter504insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368910.2:c.1510T>A