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: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000407223.2:p.Phe141Leu
CA413502334
ENST00000447581.2:c.421T>C
CA413502345
ENST00000447581.2:c.423C>A
CA413502347
ENST00000447581.2:c.423C>G