Canonical Allele Identifier: PA1139762739
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48498
ClinVar RCV Id: RCV000041824 RCV002514161 RCV003450836 RCV003450837
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gln1057Arg
CA143459
NM_206933.4:c.3170A>G