Canonical Allele Identifier: PA2828294728
Gene: PAX6 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355822.1:p.Gln436_Ter437insGlnLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA379966783
NM_001368893.2:c.1309T>C