Canonical Allele Identifier: PA2827875727
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000202457
ClinVar Variation:
218318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341478.1:p.Gly20Val
CA339616
NM_001354549.2:c.59G>T