Canonical Allele Identifier: PA1139762948
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48509
ClinVar RCV Id: RCV000041835 RCV000219904 RCV000505069 RCV000488230 RCV000787994 RCV000986538 RCV001376513 RCV002496665 RCV004537151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1301Val
CA143472
NM_206933.4:c.3902G>T