ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827875621
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_001341477.1:p.Thr656Ile
CA333375
NM_001354548.2:c.1967C>T