Allele Registry

Canonical Allele Identifier: PA1139762061

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041663

RCV000670778

RCV001074760

RCV001362594

RCV003466891

ClinVar Variation:

48342

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Arg334Gly	CA143213 NM_206933.4:c.1000C>G