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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.[Arg183Ala;Thr185_Glu186delinsProArg;Thr188_Ala197delinsProSerSerProSer;Gly199_Ile200del;Leu204_Ile214del]
CA2694032256
NM_001097642.3:c.547del