Canonical Allele Identifier: PA915953216
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 421257
ClinVar RCV Id: RCV000483765 RCV000989273 RCV001266187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Arg529His
CA16619906
NM_000462.5:c.1586G>A