Allele Registry

Canonical Allele Identifier: PA2827868060

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000413886

ClinVar Variation:

372595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341452.1:p.Asn474Asp	CA16042939 NM_001354523.2:c.1420A>G