Allele Registry

Canonical Allele Identifier: PA1139765322

Gene: USH2A HGNC NCBI

ClinVar Allele:

496179

ClinVar RCV:

RCV000613330

RCV000986515

RCV001040115

RCV001376397

RCV002506444

RCV003155245

ClinVar Variation:

504509

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Pro4818Leu	CA1393019 NM_206933.4:c.14453C>T