Canonical Allele Identifier: PA1139764810
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229617
ClinVar RCV Id: RCV000217686 RCV000756891 RCV001274936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4081Trp
CA1393518
NM_206933.4:c.12241C>T