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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000363141.1:p.[Ser281_Ala282insGlyLeuLeuMetProHisThrArgGlnProProIleProProProThrLeuProTrp;Cys283delinsSerProSerPheSerProAlaGlyAlaGln]
CA891844224
ENST00000374029.2:c.842dup
CA915951230
ENST00000374029.2:c.844dup