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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Glu110_Lys116delinsGly;Ile118_Ile121del;Thr123_Ile128del;Gly130_Ser139del]
CA2798416346
ENST00000382844.2:c.328dup