Canonical Allele Identifier: PA2830184869
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_570854.1:p.Thr126Pro
CA325625
NM_130839.2:c.376A>C