Allele Registry

Canonical Allele Identifier: PA2827865290

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147878

RCV003619649

ClinVar Variation:

160217

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341438.1:p.Val691Ile	CA173808 NM_001354509.2:c.2071G>A