Canonical Allele Identifier: PA2827865231
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155988
ClinVar RCV Id: RCV000144311

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341438.1:p.Glu584Gln
CA333372
NM_001354509.2:c.1750G>C