Canonical Allele Identifier: PA1139764817
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48397
ClinVar RCV Id: RCV000041719 RCV000727295 RCV000986518 RCV001074716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4115Cys
CA143286
NM_206933.4:c.12343C>T