ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827876376
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155988
ClinVar RCV Id:
RCV000144311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341479.1:p.Glu187Gln
CA333372
NM_001354550.2:c.559G>C