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
ENSP00000494142.2:p.Phe190Leu
CA413503196
ENST00000645009.2:c.568T>C
CA413503201
ENST00000645009.2:c.570C>A
CA413503202
ENST00000645009.2:c.570C>G