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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000363134.3:p.[Thr185_Phe190delinsSerThrProAlaPro;Val192_Leu195delinsGlnTrpThr;Ala197del;Gly199_Ile213delinsCysProAlaProProArgLysProSerSerProSerSerCys]
CA1139667646
ENST00000374022.3:c.508_551dup