Allele Registry

Canonical Allele Identifier: PA2830184502

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV002745677

ClinVar Variation:

1967077

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Val238Ile	CA391355111 NM_130838.1:c.712G>A