Allele Registry

Canonical Allele Identifier: PA1139764478

Gene: USH2A HGNC NCBI

Linked Data

ClinVar RCV:

RCV000041673

RCV000504880

RCV000665210

RCV000824783

RCV001056065

RCV001074824

RCV001376413

RCV001888190

RCV002287354

ClinVar Variation:

48352

1376832

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Trp3521Arg	CA262058 NM_206933.4:c.10561T>C CA344837377 NM_206933.4:c.10561T>A