Canonical Allele Identifier: PA2827876819
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217365
ClinVar RCV Id: RCV000201266 RCV000701063
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341480.1:p.Leu418_Lys419del
CA279164
NM_001354551.2:c.1252_1257del