Canonical Allele Identifier: PA2826475259
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245391.1:p.Gln436_Ter437insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001258462.3:c.1309T>A