Canonical Allele Identifier: PA2829689013
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48481
ClinVar RCV Id: RCV000041804 RCV000505164 RCV000627016 RCV000658550 RCV001075196 RCV001099033 RCV001171539 RCV002483035 RCV004541217
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Asp656Asn
CA143431
NM_007123.6:c.1966G>A