Canonical Allele Identifier: PA1139764614
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48362
ClinVar RCV Id: RCV000041683 RCV000666661 RCV002514158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg3641Lys
CA143239
NM_206933.4:c.10922G>A