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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.[His73del;Arg75_Trp77delinsAlaHisPro;Leu79_Pro87delinsMetGlyProAlaAlaAspLeuArgValHis;Leu89_Met93delinsSerAlaProSerGly;Val95del;Tyr97_His100delinsArgGlyLeuPro;Lys102Thr]
CA608984145
ENST00000382844.2:c.216_217insATAG