Allele Registry

Canonical Allele Identifier: PA1139763665

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000152600

RCV000504879

RCV000673612

RCV001171525

RCV001241475

RCV001274249

RCV003338428

ClinVar Variation:

166479

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Val2244Met	CA179542 NM_206933.4:c.6730G>A