Canonical Allele Identifier: PA2829689975
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179130
ClinVar RCV Id: RCV000155915 RCV000225490 RCV000668970 RCV001098834 RCV001098833 RCV001227048 RCV001376535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Cys1195Phe
CA183783
NM_007123.6:c.3584G>T