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
ENSP00000355909.3:p.Gln1417His
CA344866062
ENST00000366942.3:c.4251G>T
CA344866063
ENST00000366942.3:c.4251G>C