Canonical Allele Identifier: PA1139761917
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48522
ClinVar RCV Id: RCV000041848 RCV000881175 RCV001099314 RCV001099313 RCV004537152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly160Ser
CA143499
NM_206933.4:c.478G>A