Canonical Allele Identifier: PA2827869628
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 7969
ClinVar RCV Id: RCV000008433

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Ile150Thr
CA325628
NM_001354538.2:c.449T>C