Canonical Allele Identifier: PA2827873924
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 421257
ClinVar RCV Id: RCV000483765 RCV000989273 RCV001266187
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Arg526His
CA16619906
NM_001354545.2:c.1577G>A