Canonical Allele Identifier: PA2827874464
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160212
ClinVar RCV Id: RCV000147873
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Gln549Arg
CA333539
NM_001354546.2:c.1646A>G