Canonical Allele Identifier: PA1139763031
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 844245
ClinVar RCV Id: RCV001047049 RCV001273056 RCV003455193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg1521His
CA1395690
NM_206933.4:c.4562G>A