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.[Phe150_Val156delinsSerCysThrSerSer;Tyr158_Phe161del;Met163_Asn170delinsCysThrThr;Trp172Ser;Pro175_Asp179delinsSerGlyTrp]
CA2580086789
ENST00000382848.5:c.449del