Canonical Allele Identifier: PA2828520154
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144317
ClinVar Variation:
155994
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Thr106Lys
CA333390
NM_001374461.1:c.317C>A