Canonical Allele Identifier: PA2828301439
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355849.1:p.Gln447_Ter448insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368920.2:c.1342T>A