Allele Registry

Canonical Allele Identifier: PA1139764755

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000155323

RCV001271132

RCV001473378

RCV002514994

ClinVar Variation:

178575

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Glu3912Lys	CA182590 NM_206933.4:c.11734G>A