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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[Leu56_Phe69delinsCysSerGlnAlaAlaArgThrCysAlaThrIleThrThrSer;Ile71del;His73_Val84delinsProThrSerGlyTyrGlyProCys]
CA387461735
XM_011535049.2:c.166del