Canonical Allele Identifier: PA1139764478
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48352
ClinVar RCV Id: RCV000041673 RCV000504880 RCV000665210 RCV000824783 RCV001074824 RCV001056065 RCV002287354 RCV001376413
ClinVar Variation Id: 1376832
ClinVar RCV Id: RCV001888190
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Trp3521Arg
CA262058
NM_206933.4:c.10561T>C
CA344837377
NM_206933.4:c.10561T>A