Canonical Allele Identifier: PA2827873064
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 7968
ClinVar RCV Id: RCV000008432
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341473.1:p.Thr106Pro
CA325625
NM_001354544.2:c.316A>C