Allele Registry

Canonical Allele Identifier: PA173820

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147885

RCV001850009

ClinVar Variation:

160222

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Met90Val	CA173818 NM_130838.1:c.268A>G