Canonical Allele Identifier: PA2573102134
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 557599
ClinVar RCV Id: RCV001810480 RCV002531342 RCV002271562 RCV003453366 RCV003889962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Tyr4673His
CA37410113
NM_206933.4:c.14017T>C