Allele Registry

Canonical Allele Identifier: PA1139764863

Gene: USH2A HGNC NCBI

ClinVar Allele:

172742

ClinVar RCV:

RCV000155321

RCV000724907

RCV001272951

RCV004019860

ClinVar Variation:

178573

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Trp4200Gly	CA182586 NM_206933.4:c.12598T>G