Canonical Allele Identifier: PA1139764803
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229616
ClinVar RCV Id: RCV000213372 RCV000504751 RCV001074362 RCV001241460 RCV001810438 RCV003462402 RCV004529374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala4049Thr
CA1393526
NM_206933.4:c.12145G>A