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
ENSP00000372299.4:p.[Asn170_Ala171insLeu;Trp172_Asp179delinsLeuSerGlnHisCysGlyLeuLeu;Phe181del;Ser183_Thr186delinsProAlaHisGly;Lys188_Thr192delinsAspCysLeuHisSer;Phe194_Ala197delinsHisAspCysSer;Ser199_Gly200delinsTrpAsn]
CA2695217658
ENST00000382848.5:c.511_512del