Canonical Allele Identifier: PA1139764327
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 197932
ClinVar RCV Id: RCV000179099 RCV000190637 RCV000482080 RCV000505000 RCV000515419 RCV001073681 RCV001174974 RCV004537478
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3358Tyr
CA275315
NM_206933.4:c.10073G>A