Allele Registry

Canonical Allele Identifier: PA2827866175

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000486907

RCV000695593

ClinVar Variation:

420601

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341441.1:p.Val267Ile	CA16619910 NM_001354512.2:c.799G>A