Canonical Allele Identifier: PA1139762565
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229624
ClinVar RCV Id: RCV000215197 RCV000674556 RCV001835733 RCV002518227 RCV003454605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn827His
CA10576387
NM_206933.4:c.2479A>C