Canonical Allele Identifier: PA2830185241
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_570854.1:p.Asn696Asp
CA173805
NM_130839.2:c.2086A>G