Allele Registry

Canonical Allele Identifier: PA2573102099

Gene: USH2A HGNC NCBI

ClinVar Allele:

227209

ClinVar RCV:

RCV000490445

RCV000505039

RCV002503836

RCV002515601

RCV003454559

RCV003888648

ClinVar Variation:

225512

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Thr3667Pro	CA1393854 NM_206933.4:c.10999A>C