Canonical Allele Identifier: PA2827862677
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136204
ClinVar RCV Id: RCV000144555

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341434.1:p.Asp232Val
CA333481
NM_001354505.1:c.695A>T