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: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000407223.2:p.[Ala282_Cys283insAspAlaThrTyrGlnAlaThrSerHisProThrProAspProAlaLeuGlyGluProLeuLeuLeuPro;Cys283_Ter284insArgCysThrGly]
CA915951229
ENST00000447581.2:c.843_846del