Canonical Allele Identifier: PA2828302482
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355853.1:p.Gln369_Ter370insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368924.2:c.1108T>C