Canonical Allele Identifier: PA2828301441
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355849.1:p.Gln447_Ter448insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368920.2:c.1342T>C