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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.[Phe145_Val152delinsLeuArgProSerSerCysMetSer;Tyr154_Tyr171delinsIleCysSerThrLeuAlaMetProTrpCysGlyTrpSerSerAlaThrSerThr;Cys173Ala;Asn175del]
CA2697553167
ENST00000647424.1:c.435del