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
ENSP00000305941.3:p.Cys717Ser
CA344866067
ENST00000307340.8:c.2150G>C
CA344866073
ENST00000307340.8:c.2149T>A