Canonical Allele Identifier: PA1139762061
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48342
ClinVar RCV Id: RCV000041663 RCV000670778 RCV001074760 RCV001362594 RCV003466891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg334Gly
CA143213
NM_206933.4:c.1000C>G