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
ENSP00000502766.1:p.[Ser281_Ala282insGlyLeuLeuMetProHisThrArgGlnProProIleProProProThrLeuProTrp;Cys283delinsSerProSerPheSerProAlaGlyAlaGln]
CA891844224
ENST00000674549.1:c.842dup
CA915951230
ENST00000674549.1:c.844dup