ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827868993
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_001341455.1:p.Gly850Asp
CA235190
NM_001354526.1:c.2549G>A