ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173804
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160202
ClinVar RCV Id:
RCV000147863
RCV001762327
RCV003237745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570853.1:p.Arg39His
CA173802
NM_130838.1:c.116G>A