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
NP_003995.2:p.[Leu56_Phe69delinsCysSerGlnAlaAlaArgThrCysAlaThrIleThrThrSer;Ile71del;His73_Val84delinsProThrSerGlyTyrGlyProCys]
CA387461735
NM_004004.6:c.166del