Canonical Allele Identifier: PA1139765464
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48461

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys5122Arg
CA143395
NM_206933.4:c.15364T>C