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.Thr1053Ser	CA344862646 NM_007123.5:c.3158C>G CA344862661 NM_007123.5:c.3157A>T