Canonical Allele Identifier: PA1139763145
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48523
ClinVar RCV Id: RCV000041849 RCV000673507 RCV002514162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile1613Val
CA143501
NM_206933.4:c.4837A>G