Canonical Allele Identifier: PA2573102126
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 198344
ClinVar RCV Id: RCV000179630 RCV000504835 RCV000666708 RCV000724329 RCV001074360 RCV001449693 RCV003454469
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4439Ile
CA275369
NM_206933.4:c.13316C>T