Allele Registry

Canonical Allele Identifier: PA1139764472

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041670

RCV000669162

RCV001350663

ClinVar Variation:

48349

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Thr3506Met	CA143221 NM_206933.4:c.10517C>T