Allele Registry

Canonical Allele Identifier: PA1139762055

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000002449

RCV000303941

RCV000824798

RCV001004780

RCV001074393

RCV003460406

ClinVar Variation:

2355

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys319Tyr	CA252231 NM_206933.4:c.956G>A