ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827864132
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160216
ClinVar RCV Id:
RCV000147877
RCV001850008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341436.1:p.Asn676Asp
CA173805
NM_001354507.2:c.2026A>G