Canonical Allele Identifier: PA2499305551
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1013880
ClinVar RCV Id: RCV001312540 RCV001835527 RCV003449892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4121Cys
CA1393480
NM_206933.4:c.12361C>T