Canonical Allele Identifier: PA2829688441
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2359
ClinVar RCV Id: RCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Cys419Phe
CA252239
NM_007123.6:c.1256G>T