Allele Registry

Canonical Allele Identifier: PA1139762481

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV001199790

RCV001588010

RCV001588011

RCV003558634

ClinVar Variation:

813246

1217348

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys694Ser	CA344866378 NM_206933.4:c.2081G>C CA344866383 NM_206933.4:c.2080T>A