Allele Registry

Canonical Allele Identifier: PA2573102149

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041787

RCV000504930

RCV000585242

RCV000787986

RCV001271907

RCV002483033

ClinVar Variation:

48464

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Val5145Ile	CA143401 NM_206933.4:c.15433G>A