Canonical Allele Identifier: PA1139762491
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866389
ClinVar RCV Id: RCV001074328 RCV001238780
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys729Tyr
CA1396269
NM_206933.4:c.2186G>A