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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502556.1:p.[Asp278_Arg279insProLeuLeuGlyLeuLeuMetProHisThr;Cys280_Ser281delinsGlnProProIleProProProThrLeuProTrp;Cys283delinsSerProSerPheSerProAla]
CA2695234586
ENST00000674844.1:c.835dup