Canonical Allele Identifier: PA333492
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136207
ClinVar RCV Id: RCV000144558
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570853.1:p.Pro458Leu
CA333490
NM_130838.1:c.1373C>T