Canonical Allele Identifier: PA1139764845
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 865757
ClinVar RCV Id: RCV001073233 RCV001245929 RCV001828533 RCV002480448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4187His
CA1393450
NM_206933.4:c.12560G>A