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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.[Leu90_Lys103delinsGlnTrpProCysThrTrpProThrGlyAspMetArgArg;Lys105_Lys108del;Glu110_Lys112delinsSerSer;Glu114_Ile118delinsArgGlyArg;Glu120del]
CA2695217711
ENST00000382848.5:c.269del