Canonical Allele Identifier: PA2573102140
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438016
ClinVar RCV Id: RCV000504707 RCV000674502 RCV000657876 RCV003464079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4809Ile
CA1393021
NM_206933.4:c.14426C>T