ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827870877
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420601
ClinVar RCV Id:
RCV000486907
RCV000695593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341469.1:p.Val267Ile
CA16619910
NM_001354540.2:c.799G>A