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
ENSP00000502556.1:p.Thr185Ser
CA413503142
ENST00000674844.1:c.553A>T
CA413503148
ENST00000674844.1:c.554C>G