Allele Registry

Canonical Allele Identifier: PA2829690560

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041843

RCV001033957

RCV003450845

RCV003450846

ClinVar Variation:

48517

HGVS (amino-acid)	Matching Registered Transcripts
NP_009054.6:p.Ala1511Val	CA143485 NM_007123.6:c.4532C>T