Canonical Allele Identifier: PA2828303255
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355856.1:p.Gln369_Ter370insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368927.2:c.1108T>C