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
NP_996816.2:p.Val1348Leu	CA344866925 NM_206933.3:c.4042G>T CA344866926 NM_206933.3:c.4042G>C