Canonical Allele Identifier: PA1139763311
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 265979
ClinVar RCV Id: RCV000256390 RCV000678635 RCV001075572 RCV001171534 RCV001240204
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val1839Glu
CA10588918
NM_206933.4:c.5516T>A