Canonical Allele Identifier: PA2827874069
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 2175282
ClinVar RCV Id: RCV002579107
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Met770Leu
CA391351010
NM_001354545.2:c.2308A>T
CA391351013
NM_001354545.2:c.2308A>C