Allele Registry

Canonical Allele Identifier: PA1139764137

Gene: USH2A HGNC NCBI

ClinVar Allele:

172758

ClinVar RCV:

RCV000152585

RCV000673073

RCV001244965

ClinVar Variation:

166464

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ile3103Val	CA179526 NM_206933.4:c.9307A>G