Canonical Allele Identifier: PA2580566723
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2118133
ClinVar RCV Id: RCV003053548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys817Arg
CA344864777
NM_206933.4:c.2449T>C