Allele Registry

Canonical Allele Identifier: PA2827876820

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144763

RCV000147882

RCV002274930

ClinVar Variation:

156620

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341480.1:p.Leu418Phe	CA294630 NM_001354551.2:c.1252C>T