Allele Registry

Canonical Allele Identifier: PA2573101719

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000191140

RCV000359124

RCV000504652

RCV000765068

RCV001002722

RCV001073314

RCV003155115

RCV004530089

ClinVar Variation:

209202

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gly2224Cys	CA276179 NM_206933.4:c.6670G>T