Allele Registry

Canonical Allele Identifier: PA2573101594

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000492984

RCV000787725

RCV001073605

RCV001252667

RCV002226464

RCV003126756

ClinVar Variation:

429215

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ala4740Asp	CA1393090 NM_206933.4:c.14219C>A