Allele Registry

Canonical Allele Identifier: PA1139762224

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000155979

RCV000666822

RCV000943628

ClinVar Variation:

179193

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Thr483Met	CA183926 NM_206933.4:c.1448C>T