Allele Registry

Canonical Allele Identifier: PA2827874231

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV002745677

ClinVar Variation:

1967077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341475.1:p.Val199Ile	CA391355111 NM_001354546.2:c.595G>A