Canonical Allele Identifier: PA2829688613
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179193
ClinVar RCV Id: RCV000155979 RCV000666822 RCV000943628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Thr483Met
CA183926
NM_007123.6:c.1448C>T