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_009054.5:p.Val1130Leu	CA344868856 NM_007123.5:c.3388G>T CA344868857 NM_007123.5:c.3388G>C