Canonical Allele Identifier: PA1139764182
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179749
ClinVar RCV Id: RCV000156547 RCV000727102 RCV002515026 RCV001276957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala3230Thr
CA185062
NM_206933.4:c.9688G>A