Canonical Allele Identifier: PA333392
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_570853.1:p.Thr106Lys
CA333390
NM_130838.1:c.317C>A