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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501296.1:p.Cys3251Ser
CA344850175
ENST00000674083.1:c.9752G>C
CA344850187
ENST00000674083.1:c.9751T>A