Canonical Allele Identifier: PA2573101668
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143179
ClinVar RCV Id: RCV000132710 RCV000576637 RCV000595137 RCV001074347 RCV000986542 RCV001003277 RCV002469023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys934Trp
CA270152
NM_206933.4:c.2802T>G