Allele Registry

Canonical Allele Identifier: PA2827874416

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000483765

RCV000989273

RCV001266187

ClinVar Variation:

421257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341475.1:p.Arg467His	CA16619906 NM_001354546.2:c.1400G>A