Canonical Allele Identifier: PA2827863547
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155989
ClinVar RCV Id: RCV000144312

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341435.1:p.Thr656Ile
CA333375
NM_001354506.2:c.1967C>T