Canonical Allele Identifier: PA333545
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_570853.1:p.Asn602Ser
CA333543
NM_130838.1:c.1805A>G