Canonical Allele Identifier: PA173810
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160217
ClinVar RCV Id: RCV000147878 RCV003619649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570853.1:p.Val691Ile
CA173808
NM_130838.1:c.2071G>A