Canonical Allele Identifier: PA2828302218
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355852.1:p.Gln369_Ter370insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368923.2:c.1108T>A