Canonical Allele Identifier: PA2827874516
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 156144

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Lys640Thr
CA206151
NM_001354546.2:c.1919A>C