Canonical Allele Identifier: PA2580566905
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2084700
ClinVar RCV Id: RCV003011272
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu1292Lys
CA1395884
NM_206933.4:c.3874G>A