Canonical Allele Identifier: PA2827872768
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_001341472.1:p.Arg506His
CA16619906
NM_001354543.2:c.1517G>A