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.Lys1250Asn
CA344867769
NM_007123.5:c.3750G>T
CA344867770
NM_007123.5:c.3750G>C