Allele Registry

Canonical Allele Identifier: PA915966505

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144351

RCV001719911

RCV002512558

RCV003945159

ClinVar Variation:

156141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Asn275Ser	CA333443 NM_000462.5:c.824A>G