Canonical Allele Identifier: PA2573102046
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 295422
ClinVar RCV Id: RCV000265612 RCV000378867 RCV000840094 RCV004021420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr1482Ile
CA1395708
NM_206933.4:c.4445C>T