Allele Registry

Canonical Allele Identifier: PA2573101781

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041665

RCV000986525

RCV001514999

RCV003887881

ClinVar Variation:

48344

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Glu3411Ala	CA143215 NM_206933.4:c.10232A>C