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.Phe181Leu
CA387460930
NM_004004.6:c.543T>G
CA387460931
NM_004004.6:c.543T>A
CA387460937
NM_004004.6:c.541T>C