Canonical Allele Identifier: PA2829689235
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1967547
ClinVar RCV Id: RCV002754949

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Cys766Ser
CA344865201
NM_007123.6:c.2297G>C
CA344865207
NM_007123.6:c.2296T>A