Canonical Allele Identifier: PA2827872508
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 7969
ClinVar RCV Id: RCV000008433
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341472.1:p.Ile130Thr
CA325628
NM_001354543.2:c.389T>C