This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PAX6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000491210.1:p.Trp129_Pro249del
CA379956521
ENST00000639006.1:c.387G>A
CA379956524
ENST00000639006.1:c.386G>A