Canonical Allele Identifier: PA2573102099
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 225512
ClinVar RCV Id: RCV000505039 RCV000490445 RCV003454559 RCV003888648 RCV002515601 RCV002503836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr3667Pro
CA1393854
NM_206933.4:c.10999A>C