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.Met105Ile
CA413501893
ENST00000645009.2:c.315G>A
CA413501895
ENST00000645009.2:c.315G>C
CA413501897
ENST00000645009.2:c.315G>T