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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.[Val144_Asp159delinsAspValArgLeuLeuCysHisValArgArgLeuLeuHisAlaAlaAla;Phe161_Met163delinsGluVal;Val167_Pro173delinsAlaLeuSerGlnHis;Pro175_Cys180delinsGlyLeu]
CA2695217664
ENST00000382844.2:c.431_450del