Allele Registry

Canonical Allele Identifier: PA2573102140

Gene: USH2A HGNC NCBI

ClinVar Allele:

431572

ClinVar RCV:

RCV000504707

RCV000657876

RCV000674502

RCV003464079

ClinVar Variation:

438016

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Thr4809Ile	CA1393021 NM_206933.4:c.14426C>T