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.[Ser17_Val27delinsHisGlnHisTrpLysAspLeuAlaHisArgPro;Phe29_Ile30delinsHis;Arg32_Ala40delinsSerHisTyrAspProArgCysGlyCys;Glu42_Trp44delinsGlyGlyVal;Asp46Arg]
CA658823500
ENST00000382848.5:c.49_50del