Canonical Allele Identifier: PA2580568268
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2145950
ClinVar RCV Id: RCV003074315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4228Ile
CA1393425
NM_206933.4:c.12683C>T