Canonical Allele Identifier: PA1139762619
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48488
ClinVar RCV Id: RCV000041814 RCV000986544 RCV001098935 RCV000946559
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys849Tyr
CA143442
NM_206933.4:c.2546G>A