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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.[Gly159_Tyr171delinsAlaMetProTrpCysGlyTrpSerSerAlaThrSerThr;Cys173Ala;Asn175_Arg183delinsThrGlnTrpThrAlaSerCysProAla;Thr185_Glu186delinsProArg;Thr188del]
CA915951206
ENST00000647424.1:c.474del