Canonical Allele Identifier: PA1139764220
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48634
ClinVar RCV Id: RCV000041960 RCV000668014 RCV000787745 RCV001044836 RCV001075163 RCV003450915 RCV003450916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3267Arg
CA262135
NM_206933.4:c.9799T>C