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: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000363141.1:p.[Ala147_Val152delinsProSerSerCysMetSer;Tyr154_Tyr171delinsIleCysSerThrLeuAlaMetProTrpCysGlyTrpSerSerAlaThrSerThr;Cys173Ala;Asn175_Thr176delinsThrGln]
CA915951202
ENST00000374029.2:c.439del