Canonical Allele Identifier: PA2573101811
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 281818
ClinVar RCV Id: RCV000678644 RCV000498898 RCV000504963 RCV000675149 RCV001075586 RCV001089679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4192Cys
CA1393449
NM_206933.4:c.12574C>T