Allele Registry

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: USH2A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000501296.1:p.Arg4193Ser	CA344850572 ENST00000674083.1:c.12579A>T CA344850575 ENST00000674083.1:c.12579A>C