Canonical Allele Identifier: PA2829688343
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48373
ClinVar RCV Id: RCV001852855 RCV002307376 RCV000041694
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Tyr380Cys
CA143255
NM_007123.6:c.1139A>G