Allele Registry

Canonical Allele Identifier: PA1139762912

Gene: USH2A HGNC NCBI

ClinVar RCV:

RCV000041832

RCV000291877

RCV000346771

RCV000669144

RCV002513602

RCV003162354

ClinVar Variation:

48506

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Ile1234Val	CA143467 NM_206933.4:c.3700A>G