Canonical Allele Identifier: PA2827862771
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 156132
ClinVar RCV Id: RCV000144337 RCV000488159 RCV002316923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341434.1:p.Ser355Thr
CA333425
NM_001354505.1:c.1064G>C