Allele Registry

Canonical Allele Identifier: PA2573102002

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041791

RCV000710325

RCV000986512

RCV001509628

RCV002504926

RCV003887903

ClinVar Variation:

48468

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ser5188Gly	CA143409 NM_206933.4:c.15562A>G