Allele Registry

Canonical Allele Identifier: PA1139764220

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041960

RCV000668014

RCV000787745

RCV001044836

RCV001075163

RCV003450915

RCV003450916

ClinVar Variation:

48634

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys3267Arg	CA262135 NM_206933.4:c.9799T>C