Canonical Allele Identifier: PA2827863178
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155994
ClinVar RCV Id: RCV000144317

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341435.1:p.Thr106Lys
CA333390
NM_001354506.2:c.317C>A