Allele Registry

Canonical Allele Identifier: PA1139764723

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000155324

RCV001197770

RCV001531657

ClinVar Variation:

178576

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ala3866Val	CA182592 NM_206933.4:c.11597C>T