Canonical Allele Identifier: PA2573102127
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 440396
ClinVar RCV Id: RCV000507584 RCV001074764 RCV001374885 RCV001328024 RCV001425706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val4454Asp
CA1393303
NM_206933.4:c.13361T>A