Canonical Allele Identifier: PA2830185174
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160209
ClinVar RCV Id: RCV000147870
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Asp583Gly
CA333534
NM_130839.2:c.1748A>G