ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953548
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160221
ClinVar RCV Id:
RCV000154106
RCV000147884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000453.2:p.Gly873Asp
CA235190
NM_000462.5:c.2618G>A