Canonical Allele Identifier: PA325630
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000008433
ClinVar Variation:
7969
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570853.1:p.Ile130Thr
CA325628
NM_130838.1:c.389T>C