Canonical Allele Identifier: PA1139764721
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48377
ClinVar RCV Id: RCV000041698 RCV000986520 RCV001517697 RCV003887882 RCV002490581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr3835Ile
CA143259
NM_206933.4:c.11504C>T