Canonical Allele Identifier: PA2828294390
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355821.1:p.Gln436_Ter437insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368892.2:c.1309T>C