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.Asp4151Glu
CA344850865
ENST00000307340.8:c.12453T>G
CA344850866
ENST00000307340.8:c.12453T>A