Canonical Allele Identifier: PA2573101727
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 384319
ClinVar RCV Id: RCV000432643 RCV001003268 RCV001074794 RCV001095706 RCV002271497 RCV002272234 RCV004533027 RCV003992295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly2313Cys
CA1394996
NM_206933.4:c.6937G>T