Canonical Allele Identifier: PA1139763456
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48547
ClinVar RCV Id: RCV000041873 RCV000585540 RCV000787924 RCV000669397 RCV001273044 RCV004537154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Tyr1992Cys
CA248657
NM_206933.4:c.5975A>G