Allele Registry

Canonical Allele Identifier: PA1139763396

Gene: USH2A HGNC NCBI

ClinVar Allele:

57708

ClinVar RCV:

RCV000041872

RCV000504937

RCV000726918

RCV000765069

RCV001196428

RCV001579152

ClinVar Variation:

48546

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ala1953Gly	CA143534 NM_206933.4:c.5858C>G