Canonical Allele Identifier: PA2828520643
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 156620
ClinVar RCV Id: RCV000144763 RCV000147882 RCV002274930
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Leu835Phe
CA294630
NM_001374461.1:c.2503C>T