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_009054.6:p.[Met1517Ile;Gly1519del;Arg1521_Thr1534del;Pro1536Ter]
CA2502121361
NM_007123.6:c.4550_4551insAAAAATTCATT