Canonical Allele Identifier: PA2827869543
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 218318
ClinVar RCV Id: RCV000202457

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Gly40Val
CA339616
NM_001354538.2:c.119G>T