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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.[Met93_Val95del;His97_Leu106del;Leu108_Glu109del;His111_Leu115delinsSerProAlaThr;Leu117Arg;Val120_Arg122delinsAsnAlaThrAla]
CA915951190
ENST00000374022.3:c.277_278del