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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502556.1:p.[Thr185_Glu186delinsProArg;Thr188_Ala197delinsProSerSerProSer;Gly199_Ile200del;Ile202_Ile214del]
CA2695234571
ENST00000674844.1:c.552del