Canonical Allele Identifier: PA2827868774
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_001341455.1:p.Arg506His
CA16619906
NM_001354526.1:c.1517G>A