Allele Registry

Canonical Allele Identifier: PA2830184969

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144351

RCV001719911

RCV002512558

RCV003945159

ClinVar Variation:

156141

HGVS (amino-acid)	Matching Registered Transcripts
NP_570854.1:p.Asn272Ser	CA333443 NM_130839.2:c.815A>G