Canonical Allele Identifier: PA2829688738
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48471
ClinVar RCV Id: RCV000041794 RCV000413438 RCV000678646 RCV000787727 RCV002483034 RCV000984314 RCV001074602
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Cys536Arg
CA262095
NM_007123.6:c.1606T>C