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
ENSP00000480026.1:p.[Ala37_Ala52delinsProGlyArgAlaThrPheProGluPheCysArgProMetGlnMetGln;Val54_Cys66delinsSerLysCysTrpThrIleLysThrCysProThrAspVal]
CA16042845
ENST00000606377.7:c.109del