Allele Registry

Canonical Allele Identifier: PA2827873345

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000483765

RCV000989273

RCV001266187

ClinVar Variation:

421257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341473.1:p.Arg506His	CA16619906 NM_001354544.2:c.1517G>A