Canonical Allele Identifier: PA1139762637
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166515
ClinVar RCV Id: RCV000152629 RCV000909410 RCV000986543 RCV001098934 RCV003453140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg878His
CA179582
NM_206933.4:c.2633G>A