This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser19Arg
CA387462138
NM_004004.6:c.57C>G
CA387462140
NM_004004.6:c.57C>A
CA387462147
NM_004004.6:c.55A>C