Canonical Allele Identifier: PA2828303724
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355859.1:p.Gly194Arg
CA10575481
NM_001368930.2:c.580G>C
CA379966974
NM_001368930.2:c.580G>A