Canonical Allele Identifier: PA2827875519
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155997
ClinVar RCV Id: RCV000144320
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Arg477Pro
CA333399
NM_001354548.2:c.1430G>C