Canonical Allele Identifier: PA2827864708
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160216
ClinVar RCV Id: RCV000147877 RCV001850008
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341437.1:p.Asn676Asp
CA173805
NM_001354508.2:c.2026A>G