Canonical Allele Identifier: PA1139764870
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 504700
ClinVar RCV Id: RCV000610578 RCV001272950 RCV001454312 RCV002532735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu4209Lys
CA1393434
NM_206933.4:c.12625G>A