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.Leu1340Phe	CA344866972 NM_206933.3:c.4020A>T CA344866973 NM_206933.3:c.4020A>C