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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494596.1:p.[Val152Ser;Tyr154_Tyr171delinsIleCysSerThrLeuAlaMetProTrpCysGlyTrpSerSerAlaThrSerThr;Cys173Ala;Asn175_Val181delinsThrGlnTrpThrAlaSerCys]
CA915951203
ENST00000646835.1:c.454del