Allele Registry

Canonical Allele Identifier: PA1139762081

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000213203

RCV000668930

RCV000822071

RCV001003287

RCV001074876

RCV001273812

RCV003454598

ClinVar Variation:

228411

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Arg334Trp	CA1396625 NM_206933.4:c.1000C>T