Canonical Allele Identifier: PA2829332617
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001595.2:p.Gln436_Ter437insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001604.6:c.1309T>C