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.[His73del;Arg75_Trp77delinsAlaHisPro;Leu79_Pro87delinsMetGlyProAlaAlaAspLeuArgValHis;Leu89_Met93delinsSerAlaProSerGly;Val95del;Tyr97_His100delinsArgGlyLeuPro;Lys102Thr]
CA608984145
XM_011535049.2:c.216_217insATAG