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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Trp172_Pro173del;Pro175_Asp179delinsGlyLeuLeu;Phe181del;Ser183_Thr186delinsProAlaHisGly;Lys188_Thr192delinsAspCysLeuHisSer;Phe194_Ala197delinsHisAspCysSer;Ser199_Val207delinsTrpAsnLeuHisProAlaGluCys]
CA2695217656
ENST00000382844.2:c.516_532del