ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827870495
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160209
ClinVar RCV Id:
RCV000147870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341468.1:p.Asp563Gly
CA333534
NM_001354539.2:c.1688A>G