Allele Registry

Canonical Allele Identifier: PA2827875347

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV002745677

ClinVar Variation:

1967077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341477.1:p.Val238Ile	CA391355111 NM_001354548.2:c.712G>A