Allele Registry

Canonical Allele Identifier: PA1139764243

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000155917

RCV000666703

RCV001074861

RCV001227049

RCV001273698

RCV001376534

ClinVar Variation:

179132

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys3281Phe	CA183787 NM_206933.4:c.9842G>T