Canonical Allele Identifier: PA2580568140
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2199199
ClinVar RCV Id: RCV002634197 RCV002640620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg3999His
CA1393586
NM_206933.4:c.11996G>A