Canonical Allele Identifier: PA915953257
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144321
ClinVar Variation:
155998
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Met589Lys
CA333402
NM_000462.5:c.1766T>A