Allele Registry

Canonical Allele Identifier: PA915953500

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144315

RCV002514772

RCV003389042

ClinVar Variation:

155992

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Pro850Leu	CA333384 NM_000462.5:c.2549C>T