Canonical Allele Identifier: PA2827866708
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136204
ClinVar RCV Id: RCV000144555
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341442.1:p.Asp212Val
CA333481
NM_001354513.2:c.635A>T