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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501757.1:p.[Met162_Tyr171delinsAsnGlyAlaAlaGlyGlnValArgArgLeu;Cys173Leu;Asn175_Arg183delinsGlnHisSerGlyLeuLeuArgValPro;Thr185_Thr191delinsHisArgGluAsnArgLeuHis]
CA915951207
ENST00000675368.1:c.484dup