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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.[Glu110_Val126del;Glu129_Ile140del]
CA658823452
ENST00000382848.5:c.327_328delinsA
CA2580086790
ENST00000382848.5:c.328del