Canonical Allele Identifier: PA2828301120
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355848.1:p.Gln461_Ter462insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368919.2:c.1384T>C