Canonical Allele Identifier: PA2573315790
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1496070
ClinVar RCV Id: RCV002028424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala1082Val
CA344862464
NM_206933.4:c.3245C>T