Canonical Allele Identifier: PA1139762003
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48592
ClinVar RCV Id: RCV000041918 RCV000675158 RCV001074162 RCV001003288 RCV001060026 RCV001826601 RCV003450896
ClinVar Variation Id: 2090409
ClinVar RCV Id: RCV003005847
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly268Arg
CA143613
NM_206933.4:c.802G>A
CA344912899
NM_206933.4:c.802G>C