Allele Registry

Canonical Allele Identifier: PA1139762215

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041760

RCV000828962

RCV001099108

RCV001099109

RCV003887896

ClinVar Variation:

48437

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Glu478Asp	CA143350 NM_206933.4:c.1434G>C CA344910053 NM_206933.4:c.1434G>T