Canonical Allele Identifier: PA1139764557
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48356
ClinVar RCV Id: RCV000041677 RCV001073926 RCV001852854 RCV003450737 RCV002496659 RCV003450738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3575Tyr
CA262062
NM_206933.4:c.10724G>A