Canonical Allele Identifier: PA1139762511
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 812458
ClinVar RCV Id: RCV001073915 RCV001040831 RCV001003278 RCV003226415 RCV003455049 RCV001832324 RCV002489511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys766Arg
CA1396250
NM_206933.4:c.2296T>C