Canonical Allele Identifier: PA2826475927
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245393.1:p.Gln422_Ter423insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001258464.2:c.1267T>A