Canonical Allele Identifier: PA1139762798
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166511
ClinVar RCV Id: RCV000152625 RCV000504687 RCV000894588 RCV001100645 RCV001100644 RCV004544387
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1132Asp
CA179576
NM_206933.4:c.3395G>A