Allele Registry

Canonical Allele Identifier: PA1139763482

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041876

RCV000665501

RCV001509571

RCV002513603

ClinVar Variation:

48550

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Leu2015Phe	CA143540 NM_206933.4:c.6043C>T