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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.[Asp46_Thr55delinsAlaGlyArgLeuCysLeuGlnHisProAlaAlaArg;Pro58_Asp66delinsGluArgValLeuArgSerLeuLeuPro;Tyr68_Phe69delinsLeu;Ile71_Ser72del;Ile74_Trp77delinsProAlaMet]
CA1139663002
ENST00000382848.5:c.137_141del