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: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[Leu81_Ala88delinsAlaAsp;Leu90Arg;Ala92_Val95delinsHisAlaSer;Tyr97_Arg99delinsProSerGly;Glu101_Lys103delinsAla;Lys105_Gly109delinsGlyLeuProGluThr]
CA658823472
XM_011535049.2:c.239dup