Allele Registry

Canonical Allele Identifier: PA2499305416

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV001724840

RCV002543875

RCV004526858

ClinVar Variation:

1297136

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys536Ser	CA344907726 NM_206933.4:c.1607G>C CA344907733 NM_206933.4:c.1606T>A