Canonical Allele Identifier: PA2829687942
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48522
ClinVar RCV Id: RCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Gly160Ser
CA143499
NM_007123.6:c.478G>A