Allele Registry

Canonical Allele Identifier: PA1139762124

Gene: USH2A HGNC NCBI

ClinVar Allele:

57535

ClinVar RCV:

RCV000041694

RCV001852855

RCV002307376

ClinVar Variation:

48373

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Tyr380Cys	CA143255 NM_206933.4:c.1139A>G