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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.[Ile201_Cys218delinsHis;Gly220_Lys221delinsPheAla;Lys223_Val226delinsCys]
CA608984140
ENST00000382844.2:c.600_601insCATTC