Canonical Allele Identifier: PA2827875506
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144558
ClinVar Variation:
136207
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Pro458Leu
CA333490
NM_001354548.2:c.1373C>T