Canonical Allele Identifier: PA2573315675
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1470247
ClinVar RCV Id: RCV001973223 RCV003453902 RCV003453903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys729Arg
CA344865700
NM_206933.4:c.2185T>C