Canonical Allele Identifier: PA2499305389
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1040713
ClinVar RCV Id: RCV001344401 RCV001825903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala4153Thr
CA1393462
NM_206933.4:c.12457G>A