Canonical Allele Identifier: PA173807
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_570853.1:p.Asn676Asp
CA173805
NM_130838.1:c.2026A>G