Canonical Allele Identifier: PA2827869607
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155994
ClinVar RCV Id: RCV000144317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Thr126Lys
CA333390
NM_001354538.2:c.377C>A