Canonical Allele Identifier: PA1139762546
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178583
ClinVar RCV Id: RCV000155332 RCV001073261 RCV001051381 RCV001810429 RCV001804867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asp778Tyr
CA182608
NM_206933.4:c.2332G>T