Canonical Allele Identifier: PA2826476262
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245394.1:p.Gln422_Ter423insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001258465.3:c.1267T>C