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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.Ser19Ile
CA6904327
ENST00000382848.5:c.56G>T
CA2825002101
ENST00000382848.5:c.56_57delinsTT