Canonical Allele Identifier: PA2573315677
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1503259
ClinVar RCV Id: RCV002045391
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu736Phe
CA1396265
NM_206933.4:c.2206C>T