Canonical Allele Identifier: PA2828294054
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355820.1:p.Gln422_Ter423insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368891.2:c.1267T>A