Canonical Allele Identifier: PA1139763944
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48598

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr2781Ile
CA143623
NM_206933.4:c.8342C>T