Canonical Allele Identifier: PA2828298083
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355839.1:p.Gln128His
CA379959458
NM_001368910.2:c.384G>T
CA379959459
NM_001368910.2:c.384G>C