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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.[His100_Lys103delinsMetArgArg;Lys105_Lys108del;Glu110_Lys112delinsSerSer;Glu114_Val126delinsArgGly;Ile128_Glu129del]
CA6904286
ENST00000382844.2:c.298del