Canonical Allele Identifier: PA2580566699
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2107928
ClinVar RCV Id: RCV003029340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys749Arg
CA344865440
NM_206933.4:c.2245T>C