Canonical Allele Identifier: PA2826475595
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245392.1:p.Gln436_Ter437insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001258463.2:c.1309T>C