Allele Registry

Canonical Allele Identifier: PA1139764292

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000615396

RCV001317800

RCV001829711

ClinVar Variation:

505526

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys3306Tyr	CA1394181 NM_206933.4:c.9917G>A