Allele Registry

Canonical Allele Identifier: PA2499305648

Gene: USH2A HGNC NCBI

ClinVar Allele:

1039821

ClinVar RCV:

RCV001365783

RCV001376389

RCV003155401

ClinVar Variation:

1056888

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ser1375Leu	CA1395802 NM_206933.4:c.4124C>T