ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827876420
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155989
ClinVar RCV Id:
RCV000144312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341479.1:p.Thr259Ile
CA333375
NM_001354550.2:c.776C>T