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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501571.1:p.[Lys124_Ile127delinsIlePheThrSer;Gly129_Ile137delinsGlnGlyHisCysGlyGlyProMetSer;Val139_Leu143delinsAlaTrpCysSerGlyCysCys;Phe145_Phe149delinsArgProSerSerCys;Tyr151_Val152delinsSer;Tyr154_Leu155delinsIleCys]
CA2739273577
ENST00000675609.1:c.371_377delinsTCTTCACCT