Canonical Allele Identifier: PA1139764855
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166434
ClinVar RCV Id: RCV000152569 RCV000480057 RCV000505125 RCV000675140 RCV001004143 RCV001074420 RCV003226215 RCV004532711
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4192His
CA179511
NM_206933.4:c.12575G>A