Canonical Allele Identifier: PA2830185245
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155990
ClinVar RCV Id: RCV000144313
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Phe710Cys
CA333378
NM_130839.2:c.2129T>G