ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827874403
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155997
ClinVar RCV Id:
RCV000144320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341475.1:p.Arg438Pro
CA333399
NM_001354546.2:c.1313G>C