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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.[Ile71del;His73_Val84delinsProThrSerGlyTyrGlyProCys;Thr86_His100del]
CA2542172164
ENST00000382844.2:c.210del