Allele Registry

Canonical Allele Identifier: PA2829690330

Gene: USH2A HGNC NCBI

ClinVar Allele:

1039821

ClinVar RCV:

RCV001365783

RCV001376389

RCV003155401

ClinVar Variation:

1056888

HGVS (amino-acid)	Matching Registered Transcripts
NP_009054.6:p.Ser1375Leu	CA1395802 NM_007123.6:c.4124C>T