Canonical Allele Identifier: PA1139762293
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48471
ClinVar RCV Id: RCV000041794 RCV000413438 RCV000678646 RCV000787727 RCV002483034 RCV000984314 RCV001074602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys536Arg
CA262095
NM_206933.4:c.1606T>C