Allele Registry

Canonical Allele Identifier: PA915953202

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000413886

ClinVar Variation:

372595

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Asn497Asp	CA16042939 NM_000462.5:c.1489A>G