Allele Registry

Canonical Allele Identifier: PA1139764761

Gene: USH2A HGNC NCBI

ClinVar Allele:

172886

ClinVar RCV:

RCV000155755

RCV000671917

ClinVar Variation:

178977

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Arg3941Gln	CA183417 NM_206933.4:c.11822G>A