Canonical Allele Identifier: PA2580566707
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1967547
ClinVar RCV Id: RCV002754949

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys766Ser
CA344865201
NM_206933.4:c.2297G>C
CA344865207
NM_206933.4:c.2296T>A