ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827873545
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160219
ClinVar RCV Id:
RCV000147881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341473.1:p.Tyr829His
CA333549
NM_001354544.2:c.2485T>C