Allele Registry

Canonical Allele Identifier: PA2830185129

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000413886

ClinVar Variation:

372595

HGVS (amino-acid)	Matching Registered Transcripts
NP_570854.1:p.Asn494Asp	CA16042939 NM_130839.2:c.1480A>G