Canonical Allele Identifier: PA2827867017
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155990
ClinVar RCV Id: RCV000144313
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341442.1:p.Phe690Cys
CA333378
NM_001354513.2:c.2069T>G