Canonical Allele Identifier: PA1139764755
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178575
ClinVar RCV Id: RCV000155323 RCV001271132 RCV001473378 RCV002514994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu3912Lys
CA182590
NM_206933.4:c.11734G>A