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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495960.1:p.[Ser277_Asp278delinsGlyLeuLeuMetProHisThr;Cys280delinsGlnProProIleProProProThrLeuProTrpAla;Ser281_Ala282insProSerPheSerPro;Cys283delinsGlyAlaGln]
CA2695234583
ENST00000647424.1:c.829_842del