Canonical Allele Identifier: PA1139765322
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 504509
ClinVar RCV Id: RCV000613330 RCV001040115 RCV000986515 RCV001376397 RCV002506444 RCV003155245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro4818Leu
CA1393019
NM_206933.4:c.14453C>T