ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA333486
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
136205
ClinVar RCV Id:
RCV000144556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570853.1:p.Leu237Pro
CA333484
NM_130838.1:c.710T>C