Allele Registry

Canonical Allele Identifier: PA1139764484

Gene: USH2A HGNC NCBI

ClinVar Allele:

57515

ClinVar RCV:

RCV000041674

RCV000667791

RCV001852852

RCV003466892

ClinVar Variation:

48353

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gly3529Ser	CA143227 NM_206933.4:c.10585G>A