Canonical Allele Identifier: PA2827869683
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144555
ClinVar Variation:
136204
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Asp232Val
CA333481
NM_001354538.2:c.695A>T