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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.[Val198_Ile201delinsGln;Ile203_Cys218del;Gly220Ter]
CA261653
ENST00000382844.2:c.592_600delinsCAGTGTTCATGACATTC