Canonical Allele Identifier: PA2499305641
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 999378
ClinVar RCV Id: RCV001295370 RCV001836258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro1319Thr
CA1395863
NM_206933.4:c.3955C>A