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.Asp3253Glu	CA344850106 NM_206933.3:c.9759T>G CA344850107 NM_206933.3:c.9759T>A