Canonical Allele Identifier: PA2827865575
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144556
ClinVar Variation:
136205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341440.1:p.Leu237Pro
CA333484
NM_001354511.2:c.710T>C