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
NP_009054.5:p.Glu478Asp
CA143350
NM_007123.5:c.1434G>C
CA344910053
NM_007123.5:c.1434G>T