Canonical Allele Identifier: PA1139762945
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 940553
ClinVar RCV Id: RCV001210162 RCV001828683 RCV003284049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala1267Val
CA1395920
NM_206933.4:c.3800C>T