Canonical Allele Identifier: PA2828300036
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355845.1:p.Gly194Arg
CA5933838
NM_001368916.2:c.580G>A
CA379957031
NM_001368916.2:c.580G>C