Allele Registry

Canonical Allele Identifier: PA2827873739

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV002745677

ClinVar Variation:

1967077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341474.1:p.Val258Ile	CA391355111 NM_001354545.2:c.772G>A