Allele Registry

Canonical Allele Identifier: PA1139761917

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041848

RCV000881175

RCV001099313

RCV001099314

RCV004537152

ClinVar Variation:

48522

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