Canonical Allele Identifier: PA2827876642
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147869
ClinVar Variation:
160208
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341480.1:p.Asn144Ser
CA333531
NM_001354551.2:c.431A>G