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
ENSP00000495960.1:p.Cys283_Ter284insCysCysHisIleProGlyAsnLeuProSerHisProArgProCysProGlyArgAlaProProSerProLeuProValHisArgProLeuProAlaGlyAspTyrSerIleLysThrPheLeuProTrpLeuLeuProPheLeuProGlyProSerPhe
CA413504557
ENST00000647424.1:c.852A>C
CA413504559
ENST00000647424.1:c.852A>T