Canonical Allele Identifier: PA1139764718
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 281728
ClinVar RCV Id: RCV000724948 RCV000387630 RCV001274939 RCV002518828 RCV001073259 RCV004535263
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val3823Ile
CA1393701
NM_206933.4:c.11467G>A