Canonical Allele Identifier: PA2830185202
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160214
ClinVar RCV Id: RCV000147875 RCV000624655
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Asn622Ser
CA333543
NM_130839.2:c.1865A>G